A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.
作者信息
Arriba María, Oriola Josep, Ezquieta Begoña
机构信息
Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.
出版信息
Clin Genet. 2021 Nov;100(5):634-636. doi: 10.1111/cge.14035. Epub 2021 Aug 9.
PMID:34370296
Abstract
摘要
Zotero 插件