Article
Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population.
Journal of human genetics - 1 Jan 2006
Kloor Doris, Fumic Ksenija, Attig Sebastian, Tete Martina, Osswald Hartmut, Baric Ivo, Tomiuk Jürgen, Kömpf Jost
Abstract excerpt
Recently, a proven case of human S-adenosylhomocysteine-hydrolase (SAHH) deficiency was reported in a Croatian boy. As molecular analysis of the SAHH gene in this case revealed two different mutant alleles, we investigated the polymorphism of human SAHH in a total of 237 red blood samples from unrelated Croats using starch gel electrophoresis and an enzyme-specific staining procedure. From the relative enzymatic...
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