Reply to: GNPAT variant is associated with iron phenotype in healthy Taiwanese women: A population without the HFE C282Y mutation

Antzeko izenburuak

• Reply to HEP 16-0784.R1 and HEP 16-0898: 1) GNPAT polymorphism rs11558492 is not associated with increased severity in a large cohort of HFE p.Cys282Tyr homozygous patients; and 2) GNPAT p.D519G variant and iron metabolism during oral iron tolerance test
  nork: McLaren, Gordon D., et al.
  Argitaratua: (2017)
• GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes
  nork: Barton, James C., et al.
  Argitaratua: (2016)
• Study Site Differences in GNPAT p.D519G (rs11558492) Allele Frequencies in Men with HFE Homozygosity
  nork: McLaren, Christine E., et al.
  Argitaratua: (2015)
• Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload
  nork: McLaren, Christine E., et al.
  Argitaratua: (2015)
• Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes
  nork: Barton, James C., et al.
  Argitaratua: (2018)