| pubmed-article:9482292 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9482292 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:9482292 | lifeskim:mentions | umls-concept:C0018784 | lld:lifeskim |
| pubmed-article:9482292 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9482292 | lifeskim:mentions | umls-concept:C0205422 | lld:lifeskim |
| pubmed-article:9482292 | pubmed:issue | 9100 | lld:pubmed |
| pubmed-article:9482292 | pubmed:dateCreated | 1998-3-18 | lld:pubmed |
| pubmed-article:9482292 | pubmed:abstractText | Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and that the connexin-26 gene gap junction protein beta2 (GJB2) is mutated in DFNB1 families. We investigated mutations in the GJB2 gene in familial and sporadic cases of deafness. | lld:pubmed |
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| pubmed-article:9482292 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9482292 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9482292 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:9482292 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9482292 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9482292 | pubmed:issn | 0140-6736 | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:MansfieldEE | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:SurreySS | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:RappaportEE | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:EstivillXX | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:FortinaPP | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:GaspariniPP | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:ZelanteLL | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:MelchiondaSS | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:D'AgrumaLL | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:MilàMM | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:GoveaNN | lld:pubmed |
| pubmed-article:9482292 | pubmed:author | pubmed-author:RabionetRR | lld:pubmed |
| pubmed-article:9482292 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9482292 | pubmed:day | 7 | lld:pubmed |
| pubmed-article:9482292 | pubmed:volume | 351 | lld:pubmed |
| pubmed-article:9482292 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9482292 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9482292 | pubmed:pagination | 394-8 | lld:pubmed |
| pubmed-article:9482292 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:9482292 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9482292 | pubmed:articleTitle | Connexin-26 mutations in sporadic and inherited sensorineural deafness. | lld:pubmed |
| pubmed-article:9482292 | pubmed:affiliation | Department de Genètica, Centre de Genètica Medica i Molecular, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Catalonia, Spain. estivill@iro.es | lld:pubmed |
| pubmed-article:9482292 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9482292 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9482292 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2706 | entrezgene:pubmed | pubmed-article:9482292 | lld:entrezgene |
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