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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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Sonraí bibleagrafaíochta
Foilsithe in:Proc Natl Acad Sci U S A
Príomhchruthaitheoirí: White, P C, New, M I, Dupont, B
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: National Academy of Sciences 1984
Ábhair:
Rochtain ar líne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC392175/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6334310/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.81.23.7505
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