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Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family
Author(s) -
Li Liangshan,
Jing Zhongcui,
Cheng Lei,
Liu Wenmiao,
Wang Haiyan,
Xu Yinglei,
Zheng Xueping,
Yu Xiaoling,
Liu Shiguo
Publication year - 2020
Publication title -
the journal of gene medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 91
eISSN - 1521-2254
pISSN - 1099-498X
DOI - 10.1002/jgm.3272
Subject(s) - dysferlin , limb girdle muscular dystrophy , muscular dystrophy , compound heterozygosity , proband , genetics , sanger sequencing , biology , exome sequencing , exon , missense mutation , mutation , gene