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Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay

✍ Scribed by G Lucotte; R Sesboüé

Book ID
115638334
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
156 KB
Volume
13
Category
Article
ISSN
0890-8508

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Polymerase chain reaction-mediated site-
Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha-1-antitrypsin alleles in family members
✍ Gary Hammerberg; David F. Keren 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 506 KB

Alpha-1 -antitrypsin (A1 AT) deficiency is an autosomal hereditary disorder with a reduction in serum A1 AT levels. In a large family, we used a polymerase chain reaction (PCR)- mediated, site-directed mutagenesis assay to detect the two most common AlAT deficient variants, Z and S. By coamplificati