Article
Rapid PCR real-time genotyping of M-Malton alpha1-antitrypsin deficiency alleles by molecular beacons.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Dec 2005
Orrù Germano, Faa Gavino, Pillai Sara, Pilloni Luca, Montaldo Caterina, Pusceddu Gesuina, Piras Vincenzo, Coni Pierpaolo
Abstract excerpt
Alpha1-Antitrypsin deficiency is an autosomal codominant inherited disorder, with increased risk of developing lung and liver disease. The large majority of subjects affected by alpha1-antitrypsin deficiency carry the PIZZ or PISZ genotypes, which can be easily detected using several molecular methods. Another pathologic allele, the M-Malton variant (also known as Mnichinan and Mcagliari), can mimic the Pi Z...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.