title: The alpha 1 antitrypsin variant PI WFINNEYTOWN in a family of Caucasian origin.
abstract: During a routine screening a slow moving variant PI WFINNEYTOWN was traced in a family of Caucasian origin. The variant is not identical to W SAL and W COL. W FIN was originally detected in an American family of different ethnic origin. It is suggested that heterogeneity exists at the gene level, which is not detectable with conventional methods at the protein level.
mesh_terms: D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D044465:White People; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin