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The Human Cytochrome P450 (CYP) Allele Nomenclature Committee ( http:www.imm.Ki.se/CYPalleles/cyp21.htm ) has created a  CYP21A2  database which include a list of all reported  CYP21A2  mutations and the last update of this database was in 2006. The most up to date list of the  CYP21A2  mutations reported over the last four years was published in a recent article by Concolino et al. We report a previously undescribed mutation detected by sequence analysis of  CYP21A2  gene in an infant resulting in salt wasting congenital adrenal hyperplasia.

A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia