A MUTATION IN THE HSD11B2 GENE IN A FAMILY WITH APPARENT MINERALOCORTICOID EXCESS

被引：203

作者：

WILSON, RC

KROZOWSKI, ZS

LI, K

OBEYESEKERE, VR

RAZZAGHYAZAR, M

HARBISON, MD

WEI, JQ

SHACKLETON, CHL

FUNDER, JW

NEW, MI

机构：

[1] CORNELL UNIV, MED CTR,NEW YORK HOSP,DEPT PEDIAT, DIV PEDIAT ENDOCRINOL, NEW YORK, NY 10021 USA

[2] BAKER MED RES INST, MELBOURNE, VIC, AUSTRALIA

[3] IRAN UNIV MED SCI, TEHRAN, IRAN

[4] CHILDRENS HOSP OAKLAND, OAKLAND, CA USA

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1995年 / 80卷 / 07期

关键词：

D O I：

10.1210/jc.80.7.2263

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：2263 / 2266

页数：4

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