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

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
Materias:	"Steroid 21 monooxygenase Adult Article Child Congenital adrenal hyperplasia Genetics Human Infant Point mutation Preschool child Adrenal hyperplasia, congenital Child, preschool Humans Steroid 21-hydroxylase"
Acceso en línea:	https://repository.urosario.edu.co/handle/10336/23531

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https://repository.urosario.edu.co/handle/10336/23531

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

Internet

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