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A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

作者信息

Wilson R C, Krozowski Z S, Li K, Obeyesekere V R, Razzaghy-Azar M, Harbison M D, Wei J Q, Shackleton C H, Funder J W, New M I

机构信息

Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.

出版信息

J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6. doi: 10.1210/jcem.80.7.7608290.

DOI:10.1210/jcem.80.7.7608290
PMID:7608290
Abstract

A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation.

摘要

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