טוען...

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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Hum Mutat
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: 2016
נושאים:
גישה מקוונת: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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