(Q34246288)

31 July 2017

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title

Steroid 11 beta-hydroxylase deficiency and related disorders. (English)

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31 July 2017

White PC

1

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31 July 2017

publication date

1 March 2001

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Endocrinology and Metabolism Clinics of North America

31 July 2017

published in

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31 July 2017

volume

30

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31 July 2017

issue

1

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31 July 2017

page(s)

61-79, vi

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11 beta-hydroxylase deficiency in hyperandrogenism

31 July 2017

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Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia

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Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

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The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex

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Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

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Identifiers

DOI

1 reference

31 July 2017

1 reference