NONISOTOPIC IDENTIFICATION OF 2 POINT MUTATIONS IN THE CYP21 GENE RESPONSIBLE FOR NONCLASSIC 21-HYDROXYLASE DEFICIENCY

Authors
SHEVTSOV SP RECHITSKY S VERLINSKY O SCHWARTZ EI
Citation
Sp. Shevtsov et al., NONISOTOPIC IDENTIFICATION OF 2 POINT MUTATIONS IN THE CYP21 GENE RESPONSIBLE FOR NONCLASSIC 21-HYDROXYLASE DEFICIENCY, Biochemical medicine and metabolic biology, 52(2), 1994, pp. 85-88
Citations number
10
Categorie Soggetti
Medicine, Research & Experimental",Biology
Journal title
Biochemical medicine and metabolic biology → ACNP
ISSN journal
08854505
Volume
52
Issue
2
Year of publication
1994
Pages
85 - 88
Database
ISI
SICI code
0885-4505(1994)52:2<85:NIO2PM>2.0.ZU;2-1
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 onl y does this approach improve mutation analysis for patients with the l ate onset form of 21-hydroxylase deficiency, but it also decreases pro blems with interference by the CYP21A pseudogene sequence. (C) 1994 Ac ademic Press, Inc.