The combination of a novel 2 bp deletion mutation and p.D63H in <i>CYP11B1</i> cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency-Reference-Cited by-同舟云学术

The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency

Published:2016 Issue:3 Volume:63 Page:301-310
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Long Yang¹²,Han Su³,Zhang Xiangxun¹,Zhang Xiaojuan¹,Chen Tao³,Gao Yun³,Tian Haoming³

Affiliation:

1. Laboratory of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, P R China

2. Laboratory of Endocrinology, Experimental Medicine Center, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan 646000, P R China

3. Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, P R China

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/63/3/63_EJ15-0433/_pdf

Reference26 articles.

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2. 2. Zhao L Q, Han S, Tian H M (2008) Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. World J Pediatr 4: 85-90.

3. 3. Sarafoglou K, Lorentz C P, Otten N, Oetting W S, Grebe S K (2012) Molecular testing in congenital adrenal hyperplasia due to 21alpha-hydroxylase deficiency in the era of newborn screening. Clin Genet 82: 64-70.

4. 4. Nimkarn S, New M I (2008) Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab 19: 96-99.

5. 5. Curnow K M, Slutsker L, Vitek J, Cole T, Speiser P W, et al. (1993) Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A 90: 4552-4556.

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