The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. The gene product, a member of the major histocompatibility complex class I-like family, was found to have a mutation, Cys-282 → Tyr (C282Y), in 85% of patient chromosomes. This mutation elimina...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Feder, John N., Penny, David M., Irrinki, Alivelu, Lee, Vince K., Lebrón, José A., Watson, Nicole, Tsuchihashi, Zenta, Sigal, Elliott, Bjorkman, Pamela J., Schatzman, Randall C.
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1998
Assuntos:	Biological Sciences
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC19050/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9465039/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.95.4.1472
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