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H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency.

作者信息

Nagasaki Keisuke, Usui Takeshi, Asami Tadashi, Ogawa Yohei, Kikuchi Toru, Uchiyama Makoto

机构信息

Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan.

出版信息

Clin Pediatr Endocrinol. 2009 Oct;18(4):111-3. doi: 10.1297/cpe.18.111. Epub 2009 Nov 11.

DOI:10.1297/cpe.18.111
PMID:23926370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3687609/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8194/3687609/be3db3c31a7e/cpe-18-111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8194/3687609/be3db3c31a7e/cpe-18-111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8194/3687609/be3db3c31a7e/cpe-18-111-g001.jpg

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引用本文的文献

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Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).21-羟化酶缺乏症诊断和治疗指南（2014年修订版）
Clin Pediatr Endocrinol. 2015 Jul;24(3):77-105. doi: 10.1297/cpe.24.77. Epub 2015 Jul 18.
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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.单纯男性化型21-羟化酶缺乏症患者CYP21A2基因中孤立的p.H62L突变
Case Rep Genet. 2013;2013:143781. doi: 10.1155/2013/143781. Epub 2013 Jul 7.

本文引用的文献

1
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.在巴西和斯堪的纳维亚患者中发现的新型错义突变导致CYP21A2酶活性受到抑制。
J Clin Endocrinol Metab. 2008 Jun;93(6):2416-20. doi: 10.1210/jc.2007-2594. Epub 2008 Apr 1.
2
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.p.H62L，一种在两种形式的21-羟化酶缺乏症中发现的CYP21基因罕见突变。
J Clin Endocrinol Metab. 2008 May;93(5):1901-8. doi: 10.1210/jc.2007-2701. Epub 2008 Mar 4.
3
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
日本21-羟化酶缺乏症患者中的三种新突变
Horm Res. 2004;61(3):126-32. doi: 10.1159/000075587. Epub 2003 Dec 15.
4
Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.
Endocr J. 1998 Aug;45(4):493-7. doi: 10.1507/endocrj.45.493.
5
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.类固醇21-羟化酶缺乏症：基因型可能无法预测表型。
J Clin Endocrinol Metab. 1995 Aug;80(8):2322-9. doi: 10.1210/jcem.80.8.7629224.