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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2008-7-2
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|
pubmed:abstractText |
Mutations in the SLC26A4 gene are responsible for Pendred syndrome and non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 mutations newly identified in East Asians, as well as three common mutations in Caucasians, to characterise their molecular pathogenic mechanisms and to explore the possibility of rescuing their processing defects.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
411-9
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:18310264-Chloride-Bicarbonate Antiporters,
pubmed-meshheading:18310264-DNA, Complementary,
pubmed-meshheading:18310264-Genetic Variation,
pubmed-meshheading:18310264-HeLa Cells,
pubmed-meshheading:18310264-Hearing Loss, Sensorineural,
pubmed-meshheading:18310264-Humans,
pubmed-meshheading:18310264-Hydrogen-Ion Concentration,
pubmed-meshheading:18310264-Immunoblotting,
pubmed-meshheading:18310264-Membrane Transport Proteins,
pubmed-meshheading:18310264-Mutagenesis, Site-Directed,
pubmed-meshheading:18310264-Mutation,
pubmed-meshheading:18310264-Polymerase Chain Reaction,
pubmed-meshheading:18310264-Transfection
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pubmed:year |
2008
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|
pubmed:articleTitle |
Heterogeneity in the processing defect of SLC26A4 mutants.
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pubmed:affiliation |
Department of Pharmacology and Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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