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HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

Phenotypic expression of the common p.C282Y/p.C282Y HFE-related hemochromatosis genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. Haptoglobin has a crucial role in free hemoglobin iron recovery, and exists as three major types: Hp1-1, Hp2-1 and Hp2-2. H...

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Detalles Bibliográficos
Autores principales: Le Gac, Gérald, Ka, Chandran, Gourlaouen, Isabelle, Bryckaert, Laurence, Mercier, Anne-Yvonne, Chanu, Brigitte, Scotet, Virginie, Férec, Claude
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778137/
https://www.ncbi.nlm.nih.gov/pubmed/19960042
http://dx.doi.org/10.1155/2009/251701

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