Article
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jul 1997
Witchel S F, Lee P A, Suda-Hartman M, Trucco M, Hoffman E P
Abstract excerpt
21-Hydroxylase deficiency is one of the most common inherited disorders, with carrier frequencies of approximately 10% in all world populations studied to date. The high prevalence of the mutant gene is probably due to a flanking pseudogene serving as a reservoir for mutations. Despite the potential for a high rate of de novo mutations, a founder effect for specific gene conversions is observed in most...
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