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

doi:10.1172/JCI115182

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Article

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

The Journal of clinical investigation - 1 May 1991

White P C, Dupont J, New M I, Leiberman E, Hochberg Z, Rösler A

Abstract excerpt

Steroid 11 beta-hydroxylase (P450c11) deficiency (failure to convert 11-deoxycortisol to cortisol) causes less than 10% of cases of congenital adrenal hyperplasia in most populations, but it is relatively frequent in Jews of Moroccan origin. P450c11 is encoded by the CYP11B1 gene which is located...

Topics

Adrenal Hyperplasia, Congenital
Amino Acid Sequence
Base Sequence
Female
Humans
Jews
Male
Molecular Sequence Data
Morocco
Mutation
Steroid 11-beta-Hydroxylase

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