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Atypical haemochromatosis: phenotypic spectrum and β(2)-microglobulin candidate gene analysis

β(2)-microglobulin was investigated in atypical haemochromatosis patients not homozygous for the C282Y mutation of HFE (OMIM *235200), because the HFE protein binds β(2)-microglobulin, and in mice β(2)-microglobulin gene knockout causes hepatic iron overload. Six unrelated patients with atypical hae...

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Main Authors: Walker, A., Wallace, D., Partridge, J., Bomford, A., Dooley, J.
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 1999
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734400/
https://ncbi.nlm.nih.gov/pubmed/10424814
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