Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency-Reference-Cited by-同舟云学术

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Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

Published:1994-03-01 Issue:3 Volume:78 Page:561-567
ISSN:0021-972X
Container-title:Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:Journal of Clinical Endocrinology & Metabolism

Author:

Sanchez R.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 55 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. 3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting;Sexual Development;2021-10-08

2. 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features;International Journal of Molecular Sciences;2019-09-17

3. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency;Endocrine;2019-02-04

4. Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone;Dehydroepiandrosterone;2018

5. The next 150 years of congenital adrenal hyperplasia;The Journal of Steroid Biochemistry and Molecular Biology;2015-09

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