Summary
A nonsense mutation was found in exon 23 of the factor VIII gene of a haemophiliac patient with anti-factor VIII antibody. Genomic DNA of lymphocyte cells from the patient analyzed by Southern blot analysis with various segments of factor VIII cDNA revealed that theTaqI site in exon 23 was erased in the patient gene. The 0.3 kbp nucleotide sequence of the exon 23 was cloned and sequenced, and the substitution of nonsense (TGA) codon for the arginine (CGA) codon was found to be the possible cause of the factor VIII deficiency.
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Mikai, S., Nishimura, T., Naka, H. et al. Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody. Jap J Human Genet 33, 409–415 (1988). https://doi.org/10.1007/BF01897781
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DOI: https://doi.org/10.1007/BF01897781
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A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody
The Japanese Journal of Human Genetics (1988)