title: Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
authors: Michela
authors: M
authors: Barbaro
authors: Fernanda C
authors: FC
authors: Soardi
authors: Maricilda Palandi
authors: MP
authors: de Mello
authors: Anna
authors: A
authors: Wedell
authors: Svetlana
authors: S
authors: Lajic
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011379:Prognosis; D012720:Severity of Illness Index; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000378:metabolism
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase