In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Barbaro, Michela
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. [electronic resource] - Clinical endocrinology Jan 2015 - 37-44 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1365-2265
10.1111/cen.12526 doi
Adolescent
Adrenal Hyperplasia, Congenital--genetics
Adult
Child
Female
Genotype
Humans
In Vitro Techniques
Male
Mutation
Phenotype
Steroid 21-Hydroxylase--genetics
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. [electronic resource] - Clinical endocrinology Jan 2015 - 37-44 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1365-2265
10.1111/cen.12526 doi
Adolescent
Adrenal Hyperplasia, Congenital--genetics
Adult
Child
Female
Genotype
Humans
In Vitro Techniques
Male
Mutation
Phenotype
Steroid 21-Hydroxylase--genetics