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

Authors
WILSON RC KROZOWSKI ZS LI K OBEYESEKERE VR RAZZAGHYAZAR M HARBISON MD WEI JQ SHACKLETON CHL FUNDER JW NEW MI
Citation
Rc. Wilson et al., A MUTATION IN THE HSD11B2 GENE IN A FAMILY WITH APPARENT MINERALOCORTICOID EXCESS, The Journal of clinical endocrinology and metabolism, 80(7), 1995, pp. 2263-2266
Citations number
9
Categorie Soggetti
Endocrynology & Metabolism
Journal title
The Journal of clinical endocrinology and metabolism → ACNP
ISSN journal
0021972X
Volume
80
Issue
7
Year of publication
1995
Pages
2263 - 2266
Database
ISI
SICI code
0021-972X(1995)80:7<2263:AMITHG>2.0.ZU;2-L
Abstract
A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocortic oid Excess (AME). Sequence data demonstrate a C to T transition result ing in an R337C mutation.