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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9100
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pubmed:dateCreated |
1998-3-18
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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.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0140-6736
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pubmed:author |
pubmed-author:D'AgrumaLL,
pubmed-author:EstivillXX,
pubmed-author:FortinaPP,
pubmed-author:GaspariniPP,
pubmed-author:GoveaNN,
pubmed-author:MansfieldEE,
pubmed-author:MelchiondaSS,
pubmed-author:MilàMM,
pubmed-author:RabionetRR,
pubmed-author:RappaportEE,
pubmed-author:SurreySS,
pubmed-author:ZelanteLL
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pubmed:issnType |
Print
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pubmed:day |
7
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pubmed:volume |
351
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
394-8
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9482292-Chromosomes, Human, Pair 13,
pubmed-meshheading:9482292-Connexins,
pubmed-meshheading:9482292-DNA Mutational Analysis,
pubmed-meshheading:9482292-Deafness,
pubmed-meshheading:9482292-Female,
pubmed-meshheading:9482292-Gene Frequency,
pubmed-meshheading:9482292-Genes, Recessive,
pubmed-meshheading:9482292-Genetic Linkage,
pubmed-meshheading:9482292-Genotype,
pubmed-meshheading:9482292-Heterozygote Detection,
pubmed-meshheading:9482292-Humans,
pubmed-meshheading:9482292-Italy,
pubmed-meshheading:9482292-Male,
pubmed-meshheading:9482292-Mutation,
pubmed-meshheading:9482292-Spain
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pubmed:year |
1998
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pubmed:articleTitle |
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
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pubmed:affiliation |
Department de Genètica, Centre de Genètica Medica i Molecular, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Catalonia, Spain. estivill@iro.es
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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