Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese-Reference-Cited by-同舟云学术

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Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese

Published:2005-04 Issue:4 Volume:62 Page:418-422
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Lee Hsien-Hsiung,Won Ging-Shing,Chao Hsiang-Tai,Lee Yann-Jinn,Chung Bon-chu

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2005.02234.x/fullpdf

Reference17 articles.

1. Congenital Adrenal Hyperplasia

2. Molecular Biology of Steroid Hormone Synthesis*

3. Characterization of Two Genes Encoding Human Steroid 11β-Hydroxylase (P-45011β)

4. Cloning of cDNA and genomic DNA for human cytochrome P-45011β

Cited by 13 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. Steroid 11β-hydroxylase deficiency and related disorders;Genetic Steroid Disorders;2023

2. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency;The Journal of Steroid Biochemistry and Molecular Biology;2017-01

3. Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient;Journal of Endocrinological Investigation;2015-08-18

4. Human Cytochrome P450 Enzymes;Cytochrome P450;2015

5. Steroid 11β-Hydroxylase Deficiency and Related Disorders;Genetic Steroid Disorders;2014

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