Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

BACKGROUND: Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6....

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Aguilar-Martinez, Patricia, Grandchamp, Bernard, Cunat, Séverine, Cadet, Estelle, Blanc, François, Nourrit, Marlène, Lassoued, Kaiss, Schved, Jean-François, Rochette, Jacques
Format: Artigo
Sprog:Inglês
Udgivet: Ferrata Storti Foundation 2011
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3069226/
https://ncbi.nlm.nih.gov/pubmed/21228038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.029751
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker