Ontology type: schema:ScholarlyArticle
2013-12
AUTHORSViviana Dalamón, M. Florencia Wernert, Vanesa Lotersztein, Patricio O. Craig, Raúl Reynoso Diamante, María E. Barteik, Carlos Curet, Bibiana Paoli, Enrique Mansilla, Ana Belén Elgoyhen
ABSTRACTThis paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82 %) and 27 % were cochlear implanted. Variation of sequences was detected in 171 of the 474 patients (36 %). Overall, 43 different sequence variations were identified in GJB2 and GJB6. Four of them are reported for the first time in GJB2: c.233dupG, p.Ala78Ser, p.Val190Asp and p.Cys211Tyr. Mutations in GJB6 were detected in 3 % of patients [nine del(GJB6-D13S1830) and three del(GJB6-D13S1854)]. Of the 43 different variations identified in GJB2, 6 were polymorphisms and of the others, 10 (27 %) were truncating and 27 (73 %) were nontruncating. Patients with two truncating mutations had significantly worse hearing impairment than all other groups. Moderate phenotypes were observed in a group of patients carrying biallelic mutations (23 %). This work shows the high prevalence of GJB2 mutations in the Argentinean population and presents an analysis of moderate phenotypes in our cohort. More... »
PAGES6945-6955
http://scigraph.springernature.com/pub.10.1007/s11033-013-2814-x
DOIhttp://dx.doi.org/10.1007/s11033-013-2814-x
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1048242457
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/24158611
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]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/s11033-013-2814-x'
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curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s11033-013-2814-x'
Turtle is a human-readable linked data format.
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RDF/XML is a standard XML format for linked data.
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This table displays all metadata directly associated to this object as RDF triples.
310 TRIPLES
21 PREDICATES
79 URIs
35 LITERALS
23 BLANK NODES