title: Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.
abstract: A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.
authors.affiliation: St. Petersburg Institute of Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
authors.forename: S P
authors.initials: SP
authors.lastname: Shevtsov
authors.forename: S
authors.initials: S
authors.lastname: Rechitsky
authors.forename: O
authors.initials: O
authors.lastname: Verlinsky
authors.forename: E I
authors.initials: EI
authors.lastname: Schwartz
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D001483:Base Sequence; D003062:Codon; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D003062:Codon; D013255:Steroid 21-Hydroxylase