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

Nunez, B S

Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia. [electronic resource] - Biochemical and biophysical research communications Sep 1999 - 635-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0006-291X

10.1006/bbrc.1999.1271 doi


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