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Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional...

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Autors principals: Lee, H H, Chao, H T, Ng, H T, Choo, K B
Format: Artigo
Idioma:Inglês
Publicat: 1996
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050604/
https://ncbi.nlm.nih.gov/pubmed/8733045
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