Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.

Abstract

Deleterious mutations in the CYP21 (steroid 21-hydroxylase) gene cause congenital adrenal hyperplasia (CAH). These mutations usually result from recombinations between CYP21 and an adjacent pseudogene, CYP21P, including deletions and transfers of deleterious mutations from CYP21P to CYP21 (gene conversions). Additional rare mutations that are not gene… (More)

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Cite this paper

@article{Nuez1999FunctionalAO, title={Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.}, author={Bestina S Nu{\~n}ez and M Natividad Lobato and Paula White and Anna Meseguer}, journal={Biochemical and biophysical research communications}, year={1999}, volume={262 3}, pages={635-7} }