1993
AUTHORSAnne-Françoise Roux , Johanna Rommens , Maria A. Musarella
ABSTRACTThe understanding of the molecular basis of genetic diseases requires the identification of the affected genes or their altered functions. For each disease, one of several strategies can be used to identify the affected gene. If the biochemical defect is known, the defective protein may be immediately identified. A second strategy may involve examining known genes that have been characterized to be physiologically compatible with being the cause of a disease; these candidate genes are then tested for the presence of mutations in affected individuals. Finally, if the biochemical defect is unknown, a disease gene may be identified on the basis of its chromosomal location. In this approach, a candidate region on a chromosome must first be defined, either by linkage studies of the affected families with DNA markers or by association of chromosomal rearrangements with disease. Once a region has been identified, efforts can be directed toward isolating genes originating from this marked interval. Their candidacy can then be evaluated by examining the gene in affected individuals. More... »
PAGES153-160
Retinal Degeneration
ISBN
978-1-4613-6294-4
978-1-4615-2974-3
http://scigraph.springernature.com/pub.10.1007/978-1-4615-2974-3_15
DOIhttp://dx.doi.org/10.1007/978-1-4615-2974-3_15
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1038257395
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"
}
],
"author": [
{
"affiliation": {
"name": [
"Departments of Genetics,the Research Institute, The Hospital for Sick Children 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada"
],
"type": "Organization"
},
"familyName": "Roux",
"givenName": "Anne-Fran\u00e7oise",
"id": "sg:person.01361507304.54",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01361507304.54"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Departments of Genetics,the Research Institute, The Hospital for Sick Children 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada"
],
"type": "Organization"
},
"familyName": "Rommens",
"givenName": "Johanna",
"id": "sg:person.01355172356.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355172356.46"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Departments of Genetics,the Research Institute, The Hospital for Sick Children 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada",
"Departments of Paediatrics and the Research Institute, The Hospital for Sick Children 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada",
"Departments of Ophthalmology the Research Institute, The Hospital for Sick Children 555 University Avenue, M5G 1X8, Toronto, Ontario, Canada"
],
"type": "Organization"
},
"familyName": "Musarella",
"givenName": "Maria A.",
"id": "sg:person.01117131252.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117131252.42"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1016/0888-7543(89)90285-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001410759"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0168-9525(87)90294-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003273929"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00291236",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009850179",
"https://doi.org/10.1007/bf00291236"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00291236",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009850179",
"https://doi.org/10.1007/bf00291236"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/323646a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015578451",
"https://doi.org/10.1038/323646a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0888-7543(90)90284-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025012789"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/bjo.59.4.177",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025276256"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0888-7543(91)90132-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026586077"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00451463",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032320491",
"https://doi.org/10.1007/bf00451463"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00451463",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032320491",
"https://doi.org/10.1007/bf00451463"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0092-8674(86)90614-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035111807"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/309253a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043162135",
"https://doi.org/10.1038/309253a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1159/000133019",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045155521"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0888-7543(91)90008-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047015972"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00270570",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049824737",
"https://doi.org/10.1007/bf00270570"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00270570",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049824737",
"https://doi.org/10.1007/bf00270570"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00281063",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050226812",
"https://doi.org/10.1007/bf00281063"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00281063",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050226812",
"https://doi.org/10.1007/bf00281063"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.87.2.701",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052391299"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/328434a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1056438814",
"https://doi.org/10.1038/328434a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/1.1.41",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1059643798"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.6729462",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062640085"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1076901416",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079446674",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079702722",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079773429",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1080095577",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1080408214",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1082324758",
"type": "CreativeWork"
}
],
"datePublished": "1993",
"datePublishedReg": "1993-01-01",
"description": "The understanding of the molecular basis of genetic diseases requires the identification of the affected genes or their altered functions. For each disease, one of several strategies can be used to identify the affected gene. If the biochemical defect is known, the defective protein may be immediately identified. A second strategy may involve examining known genes that have been characterized to be physiologically compatible with being the cause of a disease; these candidate genes are then tested for the presence of mutations in affected individuals. Finally, if the biochemical defect is unknown, a disease gene may be identified on the basis of its chromosomal location. In this approach, a candidate region on a chromosome must first be defined, either by linkage studies of the affected families with DNA markers or by association of chromosomal rearrangements with disease. Once a region has been identified, efforts can be directed toward isolating genes originating from this marked interval. Their candidacy can then be evaluated by examining the gene in affected individuals.",
"editor": [
{
"familyName": "Hollyfield",
"givenName": "Joe G.",
"type": "Person"
},
{
"familyName": "Anderson",
"givenName": "Robert E.",
"type": "Person"
},
{
"familyName": "LaVail",
"givenName": "Matthew M.",
"type": "Person"
}
],
"genre": "chapter",
"id": "sg:pub.10.1007/978-1-4615-2974-3_15",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": {
"isbn": [
"978-1-4613-6294-4",
"978-1-4615-2974-3"
],
"name": "Retinal Degeneration",
"type": "Book"
},
"name": "Studies Toward the Isolation of the RP3 Gene",
"pagination": "153-160",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1038257395"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/978-1-4615-2974-3_15"
]
},
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"b63eca319aa168e2bf7aa013e2aca3f08a10cf109122926ee146728e71db7d67"
]
}
],
"publisher": {
"location": "Boston, MA",
"name": "Springer US",
"type": "Organisation"
},
"sameAs": [
"https://doi.org/10.1007/978-1-4615-2974-3_15",
"https://app.dimensions.ai/details/publication/pub.1038257395"
],
"sdDataset": "chapters",
"sdDatePublished": "2019-04-16T09:11",
"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/v90/0000000371_0000000371/records_130794_00000003.jsonl",
"type": "Chapter",
"url": "https://link.springer.com/10.1007%2F978-1-4615-2974-3_15"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1007/978-1-4615-2974-3_15'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/978-1-4615-2974-3_15'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/978-1-4615-2974-3_15'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/978-1-4615-2974-3_15'
This table displays all metadata directly associated to this object as RDF triples.
169 TRIPLES
23 PREDICATES
52 URIs
20 LITERALS
8 BLANK NODES