Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by defective adrenal steroid biosynthesis, resulting in reduced glucocorticoid and increased androgen production. The majority of cases are due to inactivation of the 21-hydroxylase gene (CYP21A2), most commonly caused by genom...

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Detaylı Bibliyografya
Asıl Yazarlar: Keen-Kim, Dianne, Redman, Joy B., Alanes, Reno U., Eachus, Michele M., Wilson, Robert C., New, Maria I., Nakamoto, Jon M., Fenwick, Raymond G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Investigative Pathology 2005
Konular:
Regular Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867523/
https://ncbi.nlm.nih.gov/pubmed/15858147
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