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Polymerase chain reaction for detection of the alpha-1-antitrypsin Z allele in chronic liver disease

โœ Scribed by Brind, A.M.; McIntosh, I.; Brock, D.J.H.; James, O.F.W.; Bassendine, M.F.


Book ID
123547896
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
237 KB
Volume
10
Category
Article
ISSN
0168-8278

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โœ Gary Hammerberg; David F. Keren ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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