Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

Context: Rare haplotypes with Q318X mutations and duplicated CYP21A2 genes have been reported to occur in different populations to a varying extent. Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation witho...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2009-10, Vol.94 (10), p.3954-3958
Hauptverfasser:	Kleinle, S., Lang, R., Fischer, G. F., Vierhapper, H., Waldhauser, F., Födinger, M., Baumgartner-Parzer, S. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Hyperplasia, Congenital - diagnosis Adrenal Hyperplasia, Congenital - genetics Adult Alleles Biological and medical sciences Blotting, Southern Endocrinopathies Feeding. Feeding behavior Female Founder Effect Fundamental and applied biological sciences. Psychology Gene Amplification Gene Duplication Genotype Glutamine Haplotypes Heterozygote HLA-B Antigens - genetics Humans Male Medical sciences Middle Aged Mutation Steroid 21-Hydroxylase - genetics Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology
Online-Zugang:	Volltext
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