Article
Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.
Molecular biotechnology - 1 Jun 2010
Denden Sabri, Lakhdar Ramzi, Leban Nadia, Ben Chibani Jemni, Haj Khelil Amel
Abstract excerpt
Alpha 1 antitrypsin deficiency (AATD) is a well recognized genetic risk factor for pulmonary disease and less common liver disease. The two most common deficiency alleles worldwide PI*S and PI*Z can be easily detected using several molecular methods. However, there are at least 30 other AATD variants, which are only detectable by alpha 1 antitrypsin (AAT) gene sequencing and, therefore, seem to be more...
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