Article
Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample.
Annals of hematology - 1 Nov 2005
Vizzi Esmeralda, Loureiro Carmen Luisa, Gerder Marlene, de las Nieves Garcia-Casal María, Rodríguez-Larralde Alvaro, Gerace Letizia, Ludert Juan Ernesto, Liprandi Ferdinando, Pujol Flor Helene
Abstract excerpt
The frequency of the C282Y, H63D and S65C alleles of the HFE gene was determined in a sample of the Venezuelan population. Two new sets of primers were tested for amplifying the regions mapping these mutations, and genotyping was performed by restriction fragment length polymorphism (RFLP). DNA sequencing was used to validate the RFLP analysis. Serum ferritin levels were also determined. Two hundred and fourteen...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
