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Rapid analysis of α1-antitrypsin PiZ genotype by a real-time PCR approach

✍ Scribed by M. Elena Ortiz-Pallardó; Hui Zhou; Hans-Peter Fischer; Thomas Neuhaus; Agapios Sachinidis; Hans Vetter; Thomas Brüning; Yon Ko

Publisher
Springer
Year
2000
Tongue
English
Weight
311 KB
Volume
78
Category
Article
ISSN
0946-2716

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✍ Pamela J. Dry 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 404 KB

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