Article
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
Nature genetics - 1 Mar 1993
Collier S, Tassabehji M, Sinnott P, Strachan T
Abstract excerpt
More than two hundred characterized 21-hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A). Gene conversion-like events have also been reported in many other human gene clusters, but in the absence of a de novo mutation, the alternative explanation of a multiple recombination is possible. We now...
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