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

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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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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

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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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DO - 10.1210/jc.80.7.2263

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AN - SCOPUS:0029060080

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JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

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

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