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Article

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

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2001

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

Abstract excerpt

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.

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Identifiers

PMID: 11380640
DOI: 10.1046/j.1365-2516.2001.00507.x

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