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Misclassification of an apparent alpha 1-antitrypsin “Z” deficiency variant by melting analysis

✍ Scribed by Dina N. Greene; Melinda Procter; David G. Grenache; Elaine Lyon; Joshua A. Bornhorst; Rong Mao


Book ID
116349125
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
335 KB
Volume
412
Category
Article
ISSN
0009-8981

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A single base substitution is responsible for the PI-Z mutation in alpha-l-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with th