Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

被引：0
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作者：
Bingqing Yu
Yinjie Gao
Jiangfeng Mao
Xi Wang
Min Nie
Xueyan Wu
机构：
[1] Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medi
来源：
Orphanet Journal of Rare Diseases | / 16卷
关键词：
NR5A1; Mutation; Disorders of sex development; Splice; Minigene;
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