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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences 1998
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC19050/
https://ncbi.nlm.nih.gov/pubmed/9465039
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