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Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect
Journal of Clinical Endocrinology and Metabolism, 10/12/09
Kleinle S et al. – The majority of individuals in whom Q318X mutations are detected carry a duplicated functional CYP21A2 gene and the rare HLA–B*50–Cw*06 haplotype.
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