Nonisotopic Identification of Two Point Mutations in the CYP21 Gene Responsible for Nonclassic 21-Hydroxylase Deficiency

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 interfere...

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Published inBiochemical medicine and metabolic biology Vol. 52; no. 2; pp. 85 - 88
Main Authors Shevtsov, S.P., Rechitsky, S., Verlinsky, O., Schwartz, E.I.
Format Journal Article
LanguageEnglish
Published Boston, MA Elsevier Inc 01.08.1994
San Diego, CA Academic Press
New York, NY
Subjects
Adrenal Hyperplasia, Congenital
Base Sequence
Codon
Humans
Molecular Sequence Data
Point Mutation
Steroid 21-Hydroxylase - genetics
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0885-4505
1557-7651
DOI:10.1006/bmmb.1994.1037