Article
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
American journal of medical genetics. Part A - 1 Aug 2012
Fattahi Zohreh, Shearer A Eliot, Babanejad Mojgan, Bazazzadegan Niloofar, Almadani Seyed Navid, Nikzat Nooshin, Jalalvand Khadijeh, Arzhangi Sanaz, Esteghamat Fatemehsadat, Abtahi Rezvan, Azadeh Batool, Smith Richard J H, Kahrizi Kimia, Najmabadi Hossein
Abstract excerpt
MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and th...
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