Article
Molecular pathology of steroid 21-hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Jan 1991
Strachan T, White P C
Abstract excerpt
The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence. Because the pathological point mutations originate from the pseudogene which shows only a small number of differences from the functional CYP21B gene sequence,...
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