Article
HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
The Journal of pediatric endocrinology - 1 Jan 2000
Einaudi S, Borelli I, Lala R, Praticŏ L, Curtoni E S, De Sanctis C
Abstract excerpt
To investigate the genetic polymorphisms of the HLA region and the molecular defect of the P450c21B gene in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, we studied 89 individuals from 25 families of CAH patients (14 classical forms, 11 non-classical forms). The following immunogenetic and hormonal investigations were performed: HLA-A and B typing, restriction fragment length polymorphism...
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