Publication: Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection
| dc.contributor.author | P. Yenchitsomanus | en_US |
| dc.contributor.author | P. Thanootarakul | en_US |
| dc.contributor.author | V. Akkarapatumwong | en_US |
| dc.contributor.author | S. Oranwiroon | en_US |
| dc.contributor.author | P. Pung-Amritt | en_US |
| dc.contributor.author | G. Veerakul | en_US |
| dc.contributor.author | C. Mahasandana | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.date.accessioned | 2018-09-07T09:47:51Z | |
| dc.date.available | 2018-09-07T09:47:51Z | |
| dc.date.issued | 2001-06-05 | en_US |
| dc.description.abstract | 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. | en_US |
| dc.identifier.citation | Haemophilia. Vol.7, No.3 (2001), 335-338 | en_US |
| dc.identifier.doi | 10.1046/j.1365-2516.2001.00507.x | en_US |
| dc.identifier.issn | 13518216 | en_US |
| dc.identifier.other | 2-s2.0-0034999139 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/123456789/26759 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0034999139&origin=inward | en_US |
| dc.subject | Medicine | en_US |
| dc.title | Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection | en_US |
| dc.type | Letter | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0034999139&origin=inward | en_US |