Salt-wasting congenital adrenal hyperplasia : Detection of mutations in CYP21B gene in a Chilean population

The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 1998-09, Vol.83 (9), p.3357-3360
Hauptverfasser:	FARDELLA, C. E, POGGI, H, PINEDA, P, SOTO, J, TORREALBA, I, CATTANI, A, OESTREICHER, E, FORADORI, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Hyperplasia, Congenital - genetics Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Alleles Biological and medical sciences Chile Endocrinopathies Female Gene Deletion Genotype Homozygote Humans Male Medical sciences Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Polymerase Chain Reaction RNA Splicing Steroid 21-Hydroxylase - genetics Tropical medicine
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