Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a...

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Main Authors: Naz, Sadaf, Giguere, Chantal M., Kohrman, David C., Mitchem, Kristina L., Riazuddin, Saima, Morell, Robert J., Ramesh, Arabandi, Srisailpathy, Srikumari, Deshmukh, Dilip, Riazuddin, Sheikh, Griffith, Andrew J., Friedman, Thomas B., Smith, Richard J. H., Wilcox, Edward R.
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2002
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC379198/
https://ncbi.nlm.nih.gov/pubmed/12145746
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