Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia

"INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to impaired cortisol secretion. Approximately 95% of CAH cases are caused by defects in the 21-hydrodylase2 (CYPA2) gene. The spectrum of clinical manifestations includes a severe and mild form of express...

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Detalles Bibliográficos
Autores Principales: Fonseca D., Gutiérrez A., Silva C., Coll M., Malo G., Orjuela C., Arteaga C., Giraldo A.
Formato: Artículo (Article)
Lenguaje:Español (Spanish)
Publicado: 2005
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