Open AccessNovel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients
Author(s) -
Xiaoyu Chen,
Danyu Song,
Yanbin Fan,
Dandan Tan,
Xingzhi Chang,
Jiangxi Xiao,
Tatsushi Toda,
Hui Xiong
Publication year - 2020
Publication title -
chinese medical journal/chinese medical journal
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000001283
Subject(s) - compound heterozygosity , congenital muscular dystrophy , medicine , exome sequencing , limb girdle muscular dystrophy , genetics , muscular dystrophy , polymicrogyria , global developmental delay , pathology , mutation , phenotype , gene , biology , epilepsy , psychiatry