P. Yenchitsomanus et al., Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection, HAEMOPHILIA, 7(3), 2001, pp. 335-338
A splicing defect with 201 nucleotide deletion in the factor VIII transcrip
t due to IVS15 + 1G > T mutation inactivating this donor splice site and ac
tivating a cryptic acceptor splice site in exon 16 was identified in a seve
re haemophilia A patient. Allele specific amplification (ASA) method was su
ccessfully developed for direct detection of this mutation.