CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency (Q28249389)

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E M Strasser-Wozak

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R Azziz

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H A Wollmann

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K Schmitt

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R Kofler

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P C White

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

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language of work or name

English

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publication date

October 1997

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published in

Human Molecular Genetics

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volume

6

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page(s)

1829-34

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issue

11

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cites work

1 reference

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A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

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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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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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A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency

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A simple salting out procedure for extracting DNA from human nucleated cells

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Magnetic separation of DNA

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Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

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A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

21 January 2018

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Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.

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Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

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Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty

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Alteration of mouse cytochrome P450coh substrate specificity by mutation of a single amino-acid residue

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