Mutations in Steroid 21-Hydroxylase (CYP21)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference42 articles.
1. Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
2. Genetic disease detection and DNA amplification using cloned thermostable ligase.
3. Abundant adrenal-specific transcription of the human P450c21A “pseudogene”
4. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
5. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.
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2. Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children;Clinical Endocrinology;2022-12-15
3. Differences in expression of genes related to steroidgenesis in abdominal subcutaneous adipose tissue of pregnant women with and without PCOS; a case control study;BMC Pregnancy and Childbirth;2021-07-07
4. Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia;Ceylon Medical Journal;2020-12-31
5. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02
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