Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection

P. YenchitsomanusP. ThanootarakulV. AkkarapatumwongS. OranwiroonP. Pung-AmrittG. VeerakulC. MahasandanaMahidol University2018-09-072018-09-072001-06-05Haemophilia. Vol.7, No.3 (2001), 335-338135182162-s2.0-0034999139https://repository.li.mahidol.ac.th/handle/123456789/26759A splicing defect with 201 nucleotide deletion in the factor VIII transcript due to IVS15 + 1G > T mutation inactivating this donor splice site and activating a cryptic acceptor splice site in exon 16 was identified in a severe haemophilia A patient. Allele specific amplification (ASA) method was successfully developed for direct detection of this mutation.Mahidol UniversityMedicineMutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detectionLetterSCOPUS10.1046/j.1365-2516.2001.00507.x