Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations-Reference-Cited by-同舟云学术

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Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations

Published:1993 Issue:5 Volume:2 Page:499-504
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Wedell Anna,Luthman Holger

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/2/5/499/1782879/2-5-499.pdf

Cited by 144 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. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;Genetic Steroid Disorders;2023

2. Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency;The Journal of Clinical Endocrinology & Metabolism;2022-04-01

3. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02

4. Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia;Frontiers in Endocrinology;2018-12-03

5. A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia;Advances in Experimental Medicine and Biology;2018

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