Premium
Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection
Author(s) -
Yenchitsomanus P.,
Thanootarakul P.,
Akkarapatumwong V.,
Oranwiroon S.,
PungAmritt P.,
Veerakul G.,
Mahasandana C.
Publication year - 2001
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.2001.00507.x
Subject(s) - exon , splice , mutation , rna splicing , exon skipping , genetics , splice site mutation , microbiology and biotechnology , haemophilia a , haemophilia b , medicine , alternative splicing , biology , gene , haemophilia , rna
A 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.