Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. Methods: Eighty-nine index patients were included in the study. DYSF gene analysis was performed by Sanger sequencing in 4...

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Bibliographic Details
Main Authors: Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang
Format: Article
Language:English
Published: Wolters Kluwer 2016-01-01
Series:Chinese Medical Journal
Subjects:
Dysferlin Gene; Dysferlinopathy; Exonic Rearrangements; Mainland China; Novel Mutation
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=19;spage=2287;epage=2293;aulast=Jin

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http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=19;spage=2287;epage=2293;aulast=Jin

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