Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Finkielstain, Gabriela P., Chen, Wuyan, Mehta, Sneha P., Fujimura, Frank K., Hanna, Reem M., Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Endocrine Society 2011
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3038490/
https://ncbi.nlm.nih.gov/pubmed/20926536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-0319
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg