Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1Gene-Reference-Cited by-同舟云学术

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Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1Gene

Published:2005-06 Issue:6 Volume:90 Page:3724-3730
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Krone Nils,Riepe Felix G.,Götze Dorothea,Korsch Eckhard,Rister Manfred,Commentz Jens,Partsch Carl-Joachim,Grötzinger Joachim,Peter Michael,Sippell Wolfgang G.

Publisher

The Endocrine Society

Subject

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

Cited by 54 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. Disorders of Adrenal Steroid Biosynthesis Defects;Reference Module in Life Sciences;2024

2. Steroid 11β-hydroxylase deficiency and related disorders;Genetic Steroid Disorders;2023

3. Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia;AACE Clinical Case Reports;2022-11

4. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child;Problems of Endocrinology;2021-11-12

5. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia;The Journal of Steroid Biochemistry and Molecular Biology;2021-07

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