Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population

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 the s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757123/
https://ncbi.nlm.nih.gov/pubmed/22736430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34411
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg