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

Authors
Yenchitsomanus, P Thanootarakul, P Akkarapatumwong, V Oranwiroon, S Pung-Amritt, P Veerakul, G Mahasandana, C
Citation
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
Citations number
11
Categorie Soggetti
Hematology
Journal title
HAEMOPHILIA
ISSN journal
13518216 → ACNP
Volume
7
Issue
3
Year of publication
2001
Pages
335 - 338
Database
ISI
SICI code
1351-8216(200105)7:3<335:MCE1SA>2.0.ZU;2-P
Abstract
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.