MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform

Hereditary hearing loss is characterized by both allelic and locus genetic heterogeneity. Both recessive and dominant forms of hearing loss may be caused by different mutations in the same deafness gene. In a family with post-lingual progressive non-syndromic deafness, whole exome sequencing of geno...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Grati, M’hamed, Yan, Denise, Raval, Manmeet H., Walsh, Tom, Ma, Qi, Chakchouk, Imen, Kannan-Sundhari, Abhiraami, Mittal, Rahul, Masmoudi, Saber, Blanton, Susan H., Tekin, Mustafa, King, Mary-Claire, Yengo, Christopher M., Liu, Xue Zhong
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833613/
https://ncbi.nlm.nih.gov/pubmed/26841241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22961
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