Identification of a novel MYO7A mutation in Usher syndrome type 1

Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generat...

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Bibliografiske detaljer
Udgivet i:Oncotarget
Main Authors: Cheng, Ling, Yu, Hongsong, Jiang, Yan, He, Juan, Pu, Sisi, Li, Xin, Zhang, Li
Format: Artigo
Sprog:Inglês
Udgivet: Impact Journals LLC 2017
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5788640/
https://ncbi.nlm.nih.gov/pubmed/29416772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.23408
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