Summary
A deletion mutation in the factor VIII gene of a severe haemophiliac patient was found along with a high level of factor VIII inhibitor in the blood plasma among seventy Japanese haemophilia A patients. The 6 kbp long deletion involved a region from somewhere betweenPstI andSstI sites at nucleotide positions 2659 and 2991 of exon 14 and intron 13, respectively (nucleotide positions were defined as in Woodet al., 1984).
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Mikami, S., Nishimura, T., Naka, H. et al. A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody. Jap J Human Genet 33, 401–407 (1988). https://doi.org/10.1007/BF01897780
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DOI: https://doi.org/10.1007/BF01897780
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Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody
The Japanese Journal of Human Genetics (1988)