Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency.
Department of Endocrinology, Internal Medicine of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xiaojing
X
Chu
Hu
H
Ding
Guanglin
G
Cui
Yujun
Y
Xu
Dao Wen
DW
Wang
Yebing
Y
He
D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D011374:Progesterone / Q000737:chemistry; D012680:Sensitivity and Specificity; D013255:Steroid 21-Hydroxylase / Q000097:blood* / Q000235:genetics*
D011374:Progesterone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase