Article
A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25.
Annals of hematology - 1 Mar 2003
Gau J P, Hsu H C, Chau W K, Ho C H
Abstract excerpt
A gross deletion in the factor VIII (FVIII) mRNA was determined by reverse transcriptase polymerase chain reaction (RT-PCR) for a patient with moderately severe hemophilia A. Sequencing of the RT-PCR product depicted a 177-bp deletion ranging from nucleotide (nt) 6724 to nt 6900 of FVIII cDNA, exactly corresponding to the whole exon 25. Further study of the genomic DNA revealed the presence of a single base pair...
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