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
Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis
✍ Scribed by C. Meisen; M. Higuchi; S. Bräutigam; A. J. Driesel; M. Blandfort; K. Olek
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 348 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0340-6717
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