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

Issued Date

2001-06-05

Resource Type

Letter

ISSN

13518216

DOI

10.1046/j.1365-2516.2001.00507.x

Other identifier(s)

2-s2.0-0034999139

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Haemophilia. Vol.7, No.3 (2001), 335-338

Suggested Citation

P. Yenchitsomanus, P. Thanootarakul, V. Akkarapatumwong, S. Oranwiroon, P. Pung-Amritt, G. Veerakul, C. Mahasandana Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection. Haemophilia. Vol.7, No.3 (2001), 335-338. doi:10.1046/j.1365-2516.2001.00507.x Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/26759

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Title

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

Author(s)

P. Yenchitsomanus
 P. Thanootarakul
 V. Akkarapatumwong
 S. Oranwiroon
 P. Pung-Amritt
 G. Veerakul
 C. Mahasandana

Other Contributor(s)

Mahidol University

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.

Keyword(s)

Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/123456789/26759

Collections

Scopus 2001-2005