Article
A large view of CYP21 locus among Sicilians and other populations: identification of a novel CYP21A2 variant in Sicily.
Journal of endocrinological investigation - 1 Dec 2011
Niceta M, Bono M, Fabiano C, Pojero F, Niceta F, Sammarco P, Corsello G, Garofalo P
Abstract excerpt
BACKGROUND: Several mutations in CYP21 locus cause 21-hydroxylase deficiency (21-OHD). The most common mutations are widespread among different geographic areas and their frequencies have been also reported to differ among certain populations. AIM: To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in the Mediterranean and other major geographic areas worldwide....
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