PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S (CROSBI ID 464721)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Topić, Elizabeta ; Žuntar, Irena ; Štefanović, Mario
engleski
PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S
alpha1-antitrypsin is important protease inhibitor . The gene is located on chromosome 14. Some deficiency alleles are associated with low levels of alpha1-antitrypsin in serum and can either be linked to liver disease and/or to early onset emphysema. The most common deficiency allele are Pi Z (single base substitution in exon 5) and Pi S (single base substitution in exon 3). Here we described the PCR-RFLP protocol for the detection of Z and S mutation in alpha1- antitrypsin gene using mutated primers.
alpha1-antitrypsin; gene; defficiency alleles; Pi Z; Pi S; PCR-RFLP
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
180-181-x.
1997.
objavljeno
Podaci o matičnoj publikaciji
First European-American Intensive Course in PCR Based Clinical and Forensic Testing : Laboratory Manual
Burgi, Dean S.
Split: Laboratorij za kliničku i molekularnu genetiku, Klinička bolnica
Podaci o skupu
First European-American Intensive Course in PCR Based Clinical and Forensic Testing
pozvano predavanje
23.09.1997-03.10.1997
Split, Hrvatska