Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1999-07

AUTHORS

Miriam Murphy, Brian McHugh, Orna Tighe, Philip Mayne, Charles O'Neill, Eileen Naughten, David T Croke

ABSTRACT

Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records, the incidence of classical transferase-deficient galactosaemia was estimated to be 1 in 480 and 1 in 30,000 among the Traveller and non-Traveller communities respectively. Fifty-six classical galactosaemic patients were screened for mutation in the GALT locus by standard molecular methods. Q188R was the sole mutant allele among the Travellers and the majority mutant allele among the non-Travellers (89.1%). Of the five non-Q188R mutant alleles in the non-Traveller group, one was R333G and one F194L with three remaining uncharacterized. Anonymous population screening has shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a Sac I RFLP flanking exon 6 of the GALT gene. This represents the first molecular genetic description of classical transferase-deficient galactosaemia in Ireland and raises intriguing questions concerning the genetic history of the Irish Travellers. More... »

PAGES

5200327

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200327

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200327

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014011992

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10439960


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Primers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Galactosemias", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Frequency", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Carrier Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ireland", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neonatal Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "UTP-Hexose-1-Phosphate Uridylyltransferase", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Department of Pathology, The Children's Hospital"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Murphy", 
        "givenName": "Miriam", 
        "id": "sg:person.01362353627.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362353627.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal College of Surgeons in Ireland", 
          "id": "https://www.grid.ac/institutes/grid.4912.e", 
          "name": [
            "Department of Pathology, The Children's Hospital", 
            "Department of Biochemistry, The Royal College of Surgeons in Ireland, Dublin, Republic of Ireland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McHugh", 
        "givenName": "Brian", 
        "id": "sg:person.0740446711.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740446711.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal College of Surgeons in Ireland", 
          "id": "https://www.grid.ac/institutes/grid.4912.e", 
          "name": [
            "Department of Biochemistry, The Royal College of Surgeons in Ireland, Dublin, Republic of Ireland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tighe", 
        "givenName": "Orna", 
        "id": "sg:person.01144217523.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144217523.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pathology, The Children's Hospital"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mayne", 
        "givenName": "Philip", 
        "id": "sg:person.01372217735.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01372217735.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pathology, The Children's Hospital"
          ], 
          "type": "Organization"
        }, 
        "familyName": "O'Neill", 
        "givenName": "Charles", 
        "id": "sg:person.01246235346.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246235346.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Metabolic Unit, The Children's Hospital"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Naughten", 
        "givenName": "Eileen", 
        "id": "sg:person.01063326215.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063326215.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal College of Surgeons in Ireland", 
          "id": "https://www.grid.ac/institutes/grid.4912.e", 
          "name": [
            "Department of Biochemistry, The Royal College of Surgeons in Ireland, Dublin, Republic of Ireland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Croke", 
        "givenName": "David T", 
        "id": "sg:person.011256356774.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011256356774.72"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf00201593", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003978778", 
          "https://doi.org/10.1007/bf00201593"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00201593", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003978778", 
          "https://doi.org/10.1007/bf00201593"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00278187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006524116", 
          "https://doi.org/10.1007/bf00278187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00278187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006524116", 
          "https://doi.org/10.1007/bf00278187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0888-7543(05)80244-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009953317"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01799433", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012680255", 
          "https://doi.org/10.1007/bf01799433"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01799433", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012680255"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013946939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1993.1193", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035424281"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(65)91782-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040885207"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(65)91782-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040885207"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(66)90217-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042746947"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(66)90217-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042746947"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.86.8.2766", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044680774"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00225208", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050195329", 
          "https://doi.org/10.1007/bf00225208"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajpa.1330980102", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050325991"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajpa.1330980102", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050325991"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/3.9.1675", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645151"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1999-07", 
    "datePublishedReg": "1999-07-01", 
    "description": "Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records, the incidence of classical transferase-deficient galactosaemia was estimated to be 1 in 480 and 1 in 30,000 among the Traveller and non-Traveller communities respectively. Fifty-six classical galactosaemic patients were screened for mutation in the GALT locus by standard molecular methods. Q188R was the sole mutant allele among the Travellers and the majority mutant allele among the non-Travellers (89.1%). Of the five non-Q188R mutant alleles in the non-Traveller group, one was R333G and one F194L with three remaining uncharacterized. Anonymous population screening has shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a Sac I RFLP flanking exon 6 of the GALT gene. This represents the first molecular genetic description of classical transferase-deficient galactosaemia in Ireland and raises intriguing questions concerning the genetic history of the Irish Travellers.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/sj.ejhg.5200327", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "7"
      }
    ], 
    "name": "Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers", 
    "pagination": "5200327", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "42bfb8846f829c7f82472e544e9ea1e45872cae12a7b7d144a45e0bd8f3e4706"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "10439960"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/sj.ejhg.5200327"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1014011992"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/sj.ejhg.5200327", 
      "https://app.dimensions.ai/details/publication/pub.1014011992"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:03", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000360_0000000360/records_118306_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/5200327"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200327'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200327'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200327'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200327'


 

This table displays all metadata directly associated to this object as RDF triples.

207 TRIPLES      21 PREDICATES      53 URIs      32 LITERALS      20 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/sj.ejhg.5200327 schema:about N098a9019b6c8462bb57e42a362dfe6f6
2 N0cd080c9835044d5bad1c449b4f66d04
3 N0fc1dd8baf8d433a814eb70c98e8781f
4 N3cbe4664602741eca56f0bd9a17e0fb9
5 N477af928c3d9459c8e25c7e71c0a60ee
6 N750191d611fb417babf34b217b758556
7 N9deeb1ff669641499c4e429012c4aaa2
8 Na62995cee5f24c818951a2538e377f79
9 Nd92d72bb391e47df90a4275c047ba501
10 Ne43dfc6ef813494b9b8570fa2bf9ad0a
11 Nf4e7692197a74c449c2ed4519709b211
12 anzsrc-for:06
13 anzsrc-for:0604
14 schema:author N2aa9936ebc364a4aa15109612fd11429
15 schema:citation sg:pub.10.1007/bf00201593
16 sg:pub.10.1007/bf00225208
17 sg:pub.10.1007/bf00278187
18 sg:pub.10.1007/bf01799433
19 https://doi.org/10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h
20 https://doi.org/10.1002/ajpa.1330980102
21 https://doi.org/10.1006/geno.1993.1193
22 https://doi.org/10.1007/bf01799433
23 https://doi.org/10.1016/0009-8981(66)90217-8
24 https://doi.org/10.1016/s0140-6736(65)91782-4
25 https://doi.org/10.1016/s0888-7543(05)80244-7
26 https://doi.org/10.1073/pnas.86.8.2766
27 https://doi.org/10.1093/hmg/3.9.1675
28 schema:datePublished 1999-07
29 schema:datePublishedReg 1999-07-01
30 schema:description Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records, the incidence of classical transferase-deficient galactosaemia was estimated to be 1 in 480 and 1 in 30,000 among the Traveller and non-Traveller communities respectively. Fifty-six classical galactosaemic patients were screened for mutation in the GALT locus by standard molecular methods. Q188R was the sole mutant allele among the Travellers and the majority mutant allele among the non-Travellers (89.1%). Of the five non-Q188R mutant alleles in the non-Traveller group, one was R333G and one F194L with three remaining uncharacterized. Anonymous population screening has shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a Sac I RFLP flanking exon 6 of the GALT gene. This represents the first molecular genetic description of classical transferase-deficient galactosaemia in Ireland and raises intriguing questions concerning the genetic history of the Irish Travellers.
31 schema:genre research_article
32 schema:inLanguage en
33 schema:isAccessibleForFree true
34 schema:isPartOf N31e6a2fac76f49fa92783c13efbd9e99
35 N6959edd4edb24eb58790967809392c03
36 sg:journal.1103410
37 schema:name Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
38 schema:pagination 5200327
39 schema:productId N0ee62c0f78b549978a7790afd32dabf9
40 N1dda9877c7ed4ad0be9c55cf7c21a34c
41 N214ccc86102b461b99a982eb9a1f3bb4
42 N345226b8bf78468995d4ccab2ece48c1
43 Nba5c6b5542d448229185d597631f06f5
44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014011992
45 https://doi.org/10.1038/sj.ejhg.5200327
46 schema:sdDatePublished 2019-04-11T12:03
47 schema:sdLicense https://scigraph.springernature.com/explorer/license/
48 schema:sdPublisher Nc92a75b382e54bebae51da27990ab717
49 schema:url http://www.nature.com/articles/5200327
50 sgo:license sg:explorer/license/
51 sgo:sdDataset articles
52 rdf:type schema:ScholarlyArticle
53 N098a9019b6c8462bb57e42a362dfe6f6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
54 schema:name Humans
55 rdf:type schema:DefinedTerm
56 N0cd080c9835044d5bad1c449b4f66d04 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Gene Frequency
58 rdf:type schema:DefinedTerm
59 N0ee62c0f78b549978a7790afd32dabf9 schema:name nlm_unique_id
60 schema:value 9302235
61 rdf:type schema:PropertyValue
62 N0fc1dd8baf8d433a814eb70c98e8781f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
63 schema:name Genetic Carrier Screening
64 rdf:type schema:DefinedTerm
65 N1dda9877c7ed4ad0be9c55cf7c21a34c schema:name readcube_id
66 schema:value 42bfb8846f829c7f82472e544e9ea1e45872cae12a7b7d144a45e0bd8f3e4706
67 rdf:type schema:PropertyValue
68 N20b3aff4ca5f4c8bb8fadce8eb19752c rdf:first sg:person.01246235346.47
69 rdf:rest Nbfc1de98bdd2479d85c38296d97aca12
70 N214ccc86102b461b99a982eb9a1f3bb4 schema:name doi
71 schema:value 10.1038/sj.ejhg.5200327
72 rdf:type schema:PropertyValue
73 N2aa9936ebc364a4aa15109612fd11429 rdf:first sg:person.01362353627.41
74 rdf:rest Nddf49b41f6e94bfc91920483b759ec8d
75 N2ae90dff7d52461d939cac347a3c1575 rdf:first sg:person.01144217523.00
76 rdf:rest Nfa2219ba3a104dbfb98fb392a694daee
77 N31e6a2fac76f49fa92783c13efbd9e99 schema:issueNumber 5
78 rdf:type schema:PublicationIssue
79 N345226b8bf78468995d4ccab2ece48c1 schema:name pubmed_id
80 schema:value 10439960
81 rdf:type schema:PropertyValue
82 N3cbe4664602741eca56f0bd9a17e0fb9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Cohort Studies
84 rdf:type schema:DefinedTerm
85 N477af928c3d9459c8e25c7e71c0a60ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Galactosemias
87 rdf:type schema:DefinedTerm
88 N6959edd4edb24eb58790967809392c03 schema:volumeNumber 7
89 rdf:type schema:PublicationVolume
90 N750191d611fb417babf34b217b758556 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Neonatal Screening
92 rdf:type schema:DefinedTerm
93 N861fd637707c4bf48e02af0195ee8dba schema:name Metabolic Unit, The Children's Hospital
94 rdf:type schema:Organization
95 N9cf0c33133d34a31a8440be06578daa4 schema:name Department of Pathology, The Children's Hospital
96 rdf:type schema:Organization
97 N9deeb1ff669641499c4e429012c4aaa2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name UTP-Hexose-1-Phosphate Uridylyltransferase
99 rdf:type schema:DefinedTerm
100 Na62995cee5f24c818951a2538e377f79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Infant, Newborn
102 rdf:type schema:DefinedTerm
103 Na750388dfb924a109fb7d94197d9073a schema:name Department of Pathology, The Children's Hospital
104 rdf:type schema:Organization
105 Nb23a3cd2c56042e98ff2492ea681254f rdf:first sg:person.011256356774.72
106 rdf:rest rdf:nil
107 Nba5c6b5542d448229185d597631f06f5 schema:name dimensions_id
108 schema:value pub.1014011992
109 rdf:type schema:PropertyValue
110 Nbfc1de98bdd2479d85c38296d97aca12 rdf:first sg:person.01063326215.26
111 rdf:rest Nb23a3cd2c56042e98ff2492ea681254f
112 Nc92a75b382e54bebae51da27990ab717 schema:name Springer Nature - SN SciGraph project
113 rdf:type schema:Organization
114 Nd92d72bb391e47df90a4275c047ba501 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Ireland
116 rdf:type schema:DefinedTerm
117 Nddf49b41f6e94bfc91920483b759ec8d rdf:first sg:person.0740446711.06
118 rdf:rest N2ae90dff7d52461d939cac347a3c1575
119 Ne43dfc6ef813494b9b8570fa2bf9ad0a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Mutation
121 rdf:type schema:DefinedTerm
122 Nf48be89649014e1f88c83af44072f5e1 schema:name Department of Pathology, The Children's Hospital
123 rdf:type schema:Organization
124 Nf4e7692197a74c449c2ed4519709b211 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name DNA Primers
126 rdf:type schema:DefinedTerm
127 Nfa2219ba3a104dbfb98fb392a694daee rdf:first sg:person.01372217735.01
128 rdf:rest N20b3aff4ca5f4c8bb8fadce8eb19752c
129 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
130 schema:name Biological Sciences
131 rdf:type schema:DefinedTerm
132 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
133 schema:name Genetics
134 rdf:type schema:DefinedTerm
135 sg:journal.1103410 schema:issn 1018-4813
136 1476-5438
137 schema:name European Journal of Human Genetics
138 rdf:type schema:Periodical
139 sg:person.01063326215.26 schema:affiliation N861fd637707c4bf48e02af0195ee8dba
140 schema:familyName Naughten
141 schema:givenName Eileen
142 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063326215.26
143 rdf:type schema:Person
144 sg:person.011256356774.72 schema:affiliation https://www.grid.ac/institutes/grid.4912.e
145 schema:familyName Croke
146 schema:givenName David T
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011256356774.72
148 rdf:type schema:Person
149 sg:person.01144217523.00 schema:affiliation https://www.grid.ac/institutes/grid.4912.e
150 schema:familyName Tighe
151 schema:givenName Orna
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144217523.00
153 rdf:type schema:Person
154 sg:person.01246235346.47 schema:affiliation N9cf0c33133d34a31a8440be06578daa4
155 schema:familyName O'Neill
156 schema:givenName Charles
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246235346.47
158 rdf:type schema:Person
159 sg:person.01362353627.41 schema:affiliation Nf48be89649014e1f88c83af44072f5e1
160 schema:familyName Murphy
161 schema:givenName Miriam
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362353627.41
163 rdf:type schema:Person
164 sg:person.01372217735.01 schema:affiliation Na750388dfb924a109fb7d94197d9073a
165 schema:familyName Mayne
166 schema:givenName Philip
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01372217735.01
168 rdf:type schema:Person
169 sg:person.0740446711.06 schema:affiliation https://www.grid.ac/institutes/grid.4912.e
170 schema:familyName McHugh
171 schema:givenName Brian
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740446711.06
173 rdf:type schema:Person
174 sg:pub.10.1007/bf00201593 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003978778
175 https://doi.org/10.1007/bf00201593
176 rdf:type schema:CreativeWork
177 sg:pub.10.1007/bf00225208 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050195329
178 https://doi.org/10.1007/bf00225208
179 rdf:type schema:CreativeWork
180 sg:pub.10.1007/bf00278187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006524116
181 https://doi.org/10.1007/bf00278187
182 rdf:type schema:CreativeWork
183 sg:pub.10.1007/bf01799433 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012680255
184 https://doi.org/10.1007/bf01799433
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h schema:sameAs https://app.dimensions.ai/details/publication/pub.1013946939
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1002/ajpa.1330980102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050325991
189 rdf:type schema:CreativeWork
190 https://doi.org/10.1006/geno.1993.1193 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035424281
191 rdf:type schema:CreativeWork
192 https://doi.org/10.1007/bf01799433 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012680255
193 rdf:type schema:CreativeWork
194 https://doi.org/10.1016/0009-8981(66)90217-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042746947
195 rdf:type schema:CreativeWork
196 https://doi.org/10.1016/s0140-6736(65)91782-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040885207
197 rdf:type schema:CreativeWork
198 https://doi.org/10.1016/s0888-7543(05)80244-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009953317
199 rdf:type schema:CreativeWork
200 https://doi.org/10.1073/pnas.86.8.2766 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044680774
201 rdf:type schema:CreativeWork
202 https://doi.org/10.1093/hmg/3.9.1675 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645151
203 rdf:type schema:CreativeWork
204 https://www.grid.ac/institutes/grid.4912.e schema:alternateName Royal College of Surgeons in Ireland
205 schema:name Department of Biochemistry, The Royal College of Surgeons in Ireland, Dublin, Republic of Ireland
206 Department of Pathology, The Children's Hospital
207 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...