A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

@article{Feder1996ANM,
  title={A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis},
  author={J. Feder and A. Gnirke and W. Thomas and Z. Tsuchihashi and D. Ruddy and A. Basava and F. Dormishian and R. Domingo and M. C. Ellis and A. Fullan and L. Hinton and N. Jones and B. Kimmel and G. S. Kronmal and P. Lauer and V. Lee and D. Loeb and F. Mapa and E. McClelland and N. Meyer and G. Mintier and N. Moeller and T. Moore and E. Morikang and C. Prass and L. Quintana and S. Starnes and R. C. Schatzman and K. J. Brunke and D. Drayna and N. Risch and B. Bacon and R. Wolff},
  journal={Nature Genetics},
  year={1996},
  volume={13},
  pages={399-408}
}
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi–organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage–disequilibrium and full haplotype analysis, we have identified a 250–kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical–by–descent in 85% of patient chromosomes… Expand
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Paper Mentions

Interventional Clinical Trial
This study will evaluate the effectiveness of a test called MCV in guiding phlebotomy (blood drawing) therapy in patients with hemochromatosis an inherited disorder that causes too much… Expand
ConditionsHemochromatosis
InterventionProcedure
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