Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference21 articles.
1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr Rev,2000
2. Congenital adrenal hyperplasia;Speiser;N Engl J Med,2003
3. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man;Carroll;Proc Natl Acad Sci USA,1985
4. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man;White;Proc Natl Acad Sci USA,1985
5. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene;Higashi;Proc Natl Acad Sci USA,1986
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency;Frontiers in Endocrinology;2022-01-24
2. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02
3. CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants;Human Mutation;2017-11-06
4. CYP21A2 intronic variants causing 21-hydroxylase deficiency;Metabolism;2017-06
5. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients;Metabolism;2012-04
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