Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population.
de Lucas
Arantza Pacho
AP
Fulgencio
Maria Guzman
MG
Robles
Jorge Muñoz
JM
Sierra
Esther Mancebo
EM
del Rey Cerros
Manuel J
MJ
Perez
Pablo Morales
PM
D017398:Alternative Splicing; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D013030:Spain
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins