Study Site Differences in GNPAT p.D519G (rs11558492) Allele Frequencies in Men with HFE Homozygosity

Ítems similars

• 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
  per: McLaren, Gordon D., et al.
  Publicat: (2017)
• GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes
  per: Barton, James C., et al.
  Publicat: (2016)
• Reply to: GNPAT variant is associated with iron phenotype in healthy Taiwanese women: A population without the HFE C282Y mutation
  per: McLaren, Christine E., et al.
  Publicat: (2016)
• Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels
  per: Secondes, Eriza S., et al.
  Publicat: (2020)
• Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload
  per: McLaren, Christine E., et al.
  Publicat: (2015)