Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1-Reference-Cited by-同舟云学术

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

Published:2013 Issue:1 Volume:60 Page:51-55
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kondo Eisuke¹,Nakamura Akie²,Homma Keiko³,Hasegawa Tomonobu⁴,Yamaguchi Takeshi¹,Narugami Masahiko¹,Hattori Tetsuo¹,Aoyagi Hayato¹,Ishizu Katsura²,Tajima Toshihiro²

Affiliation:

1. Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan

2. Department of Pediatrics Hokkaido University School of Medicine, Sapporo 060-8638, Japan

3. Central Clinical Laboratories, Keio University Hospital, Tokyo, 160-8582, Japan

4. Department of Pediatrics , Keio University School of Medicine, Tokyo 160-8582, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/60/1/60_EJ12-0248/_pdf

Reference9 articles.

1. 1. Curnow KM, Tusie-Luna MT, Pascoe L, Natarajan R, Gu JL, et al. (1991) The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 5:1513-522.

2. 2. White PC, Curnow KM, Pascoe L (1994) Disorders of steroid 11β-hydroxylase isozymes. Endocr Rev 15:421-438.

3. 3. Geley S, Johrer K, Peter M, Denner K, Bernhardt R, et al. (1995) Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J Clin Endocrinol Metab 80:424 -429.

4. 6. Kayes-Wandover KM, Schindler RE, Taylor HC, White PC (2001) Type 1 aldosterone synthase deficiency presenting in a middle-aged man. J Clin Endocrinol Metab 86:1008 -1012.

5. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

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