A Novel Missense Mutation of Mineralocorticoid Receptor Gene in One Japanese Family with a Renal Form of Pseudohypoaldosteronism Type 1-Reference-Cited by-同舟云学术

A Novel Missense Mutation of Mineralocorticoid Receptor Gene in One Japanese Family with a Renal Form of Pseudohypoaldosteronism Type 1

Published:2000-12-01 Issue:12 Volume:85 Page:4690-4694
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Tajima Toshihiro¹,Kitagawa Hirochika²,Yokoya Susumu³⁴,Tachibana Katsuhiko³,Adachi Masanori³,Nakae Jun¹,Suwa Seizo³,Katoh Shigeaki²,Fujieda Kenji¹

Affiliation:

1. Department of Pediatrics (T.T., J.N., K.F.), Hokkaido University School of Medicine, Sapporo 060-8638

2. Institute for Molecular and Cellular Bioscience (H.K., S.K.), The University of Tokyo, Tokyou 113-0032

3. Department of Endocrinology and Metabolism (S.Y., K.T., M.A., S.S.), Kanagawa Children’s Medical Center, Yokohama 232-8555

4. Department of Pediatrics, Toranomon Hospital (S.Y.), Tokyo 105-8470, Japan

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/85/12/4690/9182721/jcem4690.pdf

Reference16 articles.

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2. The natural history of salt-wasting disorders of adrenal and renal origin.;J Clin Endocrinol Metab,1984

3. Type 1 pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.;J Clin Endocrinol Metab,1991

4. Abnormalities of aldosterone synthesis and action in children.;Curr Opin Pediatr,1997

5. Dysfunction of epithelial sodium transport: from human to mouse.;Hummiler;Kidney Int,2000

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