Article
Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Clinical chemistry - 1 Aug 1992
Tazelaar J P, Friedman K J, Kline R S, Guthrie M L, Farber R A
Abstract excerpt
alpha 1-Antitrypsin (A1AT) deficiency is a relatively common autosomal recessive disease, resulting most often from a single base pair (1 bp) substitution called the Z mutation. Previous genetic tests for carriers and affected patients have relied on quantitative binding of radioactive probes to an amplified gene product, because the mutation does not occur within a restriction enzyme site. Using polymerase chain...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.