Source:http://linkedlifedata.com/resource/pubmed/id/21086793
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
9-10
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pubmed:dateCreated |
2010-11-19
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pubmed:abstractText |
Hearing loss is a serious sensory defect in the world. Mutations in the GJB2 and GJB6 genes are the major causes of autosomal recessive nonsyndromic hearing loss (NSHL). Recently, three major large deletions in the GJB6 gene including del(GJB6-D13S1830), del(GJB6-D13S1854), and a > 920 kb deletion have been reported to form double heterozygosity with GJB2. This may suggest that deletions involving GJB6 may be responsible for some NSHL.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1433-6510
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
467-71
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pubmed:meshHeading |
pubmed-meshheading:21086793-Connexins,
pubmed-meshheading:21086793-Gene Amplification,
pubmed-meshheading:21086793-Genes, Recessive,
pubmed-meshheading:21086793-Hearing Loss,
pubmed-meshheading:21086793-Heterozygote,
pubmed-meshheading:21086793-Homozygote,
pubmed-meshheading:21086793-Humans,
pubmed-meshheading:21086793-Iran,
pubmed-meshheading:21086793-Mutation,
pubmed-meshheading:21086793-Polymerase Chain Reaction,
pubmed-meshheading:21086793-Sequence Deletion
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pubmed:year |
2010
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pubmed:articleTitle |
Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.
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pubmed:affiliation |
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
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pubmed:publicationType |
Journal Article
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