Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene

مواد مشابهة

• Evidence of pathogenicity of a mutation in 3′ untranslated region causing mild haemophilia A
  حسب: El Maarri, O.
  منشور في: (2016)
• Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene
  حسب: El-Maarri, O.
  منشور في: (2005)
• De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism
  حسب: El Maarri, Osman
  منشور في: (2000)
• Deep intronic ‘mutations’ cause hemophilia A
  حسب: El Maarri, O.
  منشور في: (2013)
• Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells
  حسب: El Maarri, Osman
  منشور في: (1998)