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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
40
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pubmed:dateCreated |
2002-11-7
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pubmed:abstractText |
Hereditary hearing impairment is a heterogeneous disorder showing different pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic non-syndromic deafness in different populations. Mutations in GJB2 gene, encoding gap junction protein (Connexin 26), may be responsible for up to 50% of cases of autosomal recessive non-syndromic hearing impairment and in 15-30% of sporadic cases.
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pubmed:language |
hun
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0030-6002
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
6
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pubmed:volume |
143
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2285-9
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pubmed:dateRevised |
2009-10-21
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pubmed:meshHeading |
pubmed-meshheading:12420583-Adult,
pubmed-meshheading:12420583-Case-Control Studies,
pubmed-meshheading:12420583-Connexins,
pubmed-meshheading:12420583-DNA Mutational Analysis,
pubmed-meshheading:12420583-Diseases in Twins,
pubmed-meshheading:12420583-Female,
pubmed-meshheading:12420583-Hearing Loss, Sensorineural,
pubmed-meshheading:12420583-Heterozygote,
pubmed-meshheading:12420583-Humans,
pubmed-meshheading:12420583-Hungary,
pubmed-meshheading:12420583-Incidence,
pubmed-meshheading:12420583-Male,
pubmed-meshheading:12420583-Mutation,
pubmed-meshheading:12420583-Phenotype,
pubmed-meshheading:12420583-Predictive Value of Tests,
pubmed-meshheading:12420583-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12420583-Severity of Illness Index,
pubmed-meshheading:12420583-Twin Studies as Topic
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pubmed:year |
2002
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|
pubmed:articleTitle |
[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].
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pubmed:affiliation |
Debreceni Egyetem Orvos- és Egészségtudományi Centrum, Altalános Orvostudományi Kar Fül-orr-gégeklinika, Debrecen.
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pubmed:publicationType |
Journal Article,
English Abstract
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