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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2002
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC379198/
https://ncbi.nlm.nih.gov/pubmed/12145746
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky