Title : Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 - A Study of 365 Children and Adolescents.

Pub. Date : 2021 Jul

PMID : 32838438






2 Functional Relationships(s)
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1 BACKGROUND: Mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH) and are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood. 17-alpha-Hydroxyprogesterone cytochrome P450 family 21 subfamily A member 2 Homo sapiens
2 BACKGROUND: Mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH) and are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood. 17-alpha-Hydroxyprogesterone cytochrome P450 family 21 subfamily A member 2 Homo sapiens