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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC379198/
https://ncbi.nlm.nih.gov/pubmed/12145746
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