A mutation in the HSD11B2 gene in a family with Apparent Mineralocorticoid Excess

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

doi:10.1210/jc.80.7.2263

A mutation in the HSD11B2 gene in a family with Apparent Mineralocorticoid Excess

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

Research output: Contribution to journal › Article › peer-review

241 Scopus citations

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.

Original language	English
Pages (from-to)	2263-2266
Number of pages	4
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	80
Issue number	7
DOIs	https://doi.org/10.1210/jc.80.7.2263
State	Published - Jul 1995
Externally published	Yes

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title = "A mutation in the HSD11B2 gene in a family with Apparent Mineralocorticoid Excess",

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.",

author = "Wilson, \{R. C.\} and Krozowski, \{Z. S.\} and K. Li and Obeyesekere, \{V. R.\} and M. Razzaghy-Azar and Harbison, \{M. D.\} and Wei, \{J. Q.\} and Shackleton, \{C. H.L.\} and Funder, \{J. W.\} and New, \{M. I.\}",

year = "1995",

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language = "English",

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AU - Wilson, R. C.

AU - Krozowski, Z. S.

AU - Li, K.

AU - Obeyesekere, V. R.

AU - Razzaghy-Azar, M.

AU - Harbison, M. D.

AU - Wei, J. Q.

AU - Shackleton, C. H.L.

AU - Funder, J. W.

AU - New, M. I.

PY - 1995/7

Y1 - 1995/7

N2 - 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.

AB - 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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U2 - 10.1210/jc.80.7.2263

DO - 10.1210/jc.80.7.2263

M3 - Article

C2 - 7608290

AN - SCOPUS:0029060080

SN - 0021-972X

VL - 80

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EP - 2266

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 7

ER -

A mutation in the HSD11B2 gene in a family with Apparent Mineralocorticoid Excess

Abstract

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