Ontology highlight
ABSTRACT:
SUBMITTER: Hwang DY
PROVIDER: S-EPMC3180445 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Hwang Daw-Yang DY Hung Chi-Chih CC Riepe Felix G FG Auchus Richard J RJ Kulle Alexandra E AE Holterhus Paul-Martin PM Chao Mei-Chyn MC Kuo Mei-Chuan MC Hwang Shang-Jyh SJ Chen Hung-Chun HC
PloS one 20110926 9
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic CYP17A1 mutation. The coding regions and flanking intronic bases of the CYP17A1 gene were amplified by ...[more]