HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

We have determined the molecular genetic basis of congenital adrenal hyperplasia due to 21-hydroxylase (21-OHase) deficiency. This common disorder of cortisol biosynthesis is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OHase deficiency and always carries a null allele...

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Main Authors: White, P C, New, M I, Dupont, B
Formato: Artigo
Idioma:Inglês
Publicado: 1984
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC392175/
https://ncbi.nlm.nih.gov/pubmed/6334310
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