Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.
Ectopic mRNA was analyzed by reverse transcriptase polymerase chain reaction (RT-PCR) in patients with duplication of F8 gene exon 13, a mutation which has been demonstrated to be a cause of mild hemophilia A in 32% of Northern Italian subjects. Two different transcripts originate from mutated genomic DNA, due to alternative splice processes. The larger-sized transcript contains both duplicated exons 13, the smaller one contains only one exon 13. The residual FVIII:C activity which accounts for the mild hemophilia A phenotype derives from the latter transcript.
Acquila
Maura
M
Pasino
Mirella
M
Lanza
Tiziana
T
Molinari
Angelo Claudio
AC
Rosano
Camillo
C
Bicocchi
Maria Patrizia
MP
D017398:Alternative Splicing; D005091:Exons; D005169:Factor VIII / Q000235:genetics* / Q000502:physiology*; D020440:Gene Duplication; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D007558:Italy; D008957:Models, Genetic; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism
D012333:RNA, Messenger; D005169:Factor VIII