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