Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene

This publication has 30 references indexed in Scilit:

• Sequence of the rat factor VIII cDNA
  Thrombosis and Haemostasis, 2004
• Glycosylation defects: a new mechanism for muscular dystrophy?
  Human Molecular Genetics, 2003
• Analysis of splice‐site mutations of the α‐galactosidase A gene in Fabry disease
  Clinical Genetics, 2003
• Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A
  Haemophilia, 2001
• Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A
  Haemophilia, 2001
• Improved Splice Site Detection in Genie
  Journal of Computational Biology, 1997
• Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia
  Human Molecular Genetics, 1996
• Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
  Nature Genetics, 1993
• Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
  Human Molecular Genetics, 1993
• Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A
  Human Mutation, 1992