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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...

詳細記述

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書誌詳細
出版年:Hum Mutat
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
オンライン・アクセス: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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