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

Nunez, B S; Lobato, M N; White, P C; Meseguer, A

Nunez, B S; Lobato, M N; White, P C; Meseguer, A.

Affiliation

Nunez BS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, 75235-9063, USA.

Biochem Biophys Res Commun ; 262(3): 635-7, 1999 Sep 07.

Article in En | MEDLINE | ID: mdl-10471376

Subject(s)

Adrenal Hyperplasia, Congenital/genetics; Mutation, Missense; Point Mutation; Steroid 21-Hydroxylase/genetics; 17-alpha-Hydroxyprogesterone/metabolism; Adrenal Hyperplasia, Congenital/enzymology; Amino Acid Substitution; Animals; CHO Cells; Cricetinae; Gene Conversion; Humans; Mutagenesis, Site-Directed; Progesterone/metabolism; Pseudogenes; Recombinant Proteins/metabolism; Recombination, Genetic; Spain; Steroid 21-Hydroxylase/metabolism; Substrate Specificity; Transfection

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Database: MEDLINE Main subject: Steroid 21-Hydroxylase / Point Mutation / Adrenal Hyperplasia, Congenital / Mutation, Missense Limits: Animals / Humans Country/Region as subject: Europa Language: En Year: 1999 Type: Article

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