Literature DB >> 7608290

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

R C Wilson1, Z S Krozowski, K Li, V R Obeyesekere, M Razzaghy-Azar, M D Harbison, J Q Wei, C H Shackleton, J W Funder, M I New.   

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.

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Year:  1995        PMID： 7608290     DOI： 10.1210/jcem.80.7.7608290

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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