A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
Author:
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry, medical,Clinical Biochemistry,General Medicine
Link
https://www.degruyter.com/document/doi/10.1515/CCLM.2009.195/pdf
Reference7 articles.
1. Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2. Salt Wasting in Simple Virilizing Congenital Adrenal Hyperplasia
3. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
4. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
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