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Editorial
. 2018 Feb;103(2):195-196.
doi: 10.3324/haematol.2017.186353.

Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene

Giancarlo Castaman  1
Affiliations
Editorial

Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene

Giancarlo Castaman. Haematologica. 2018 Feb.
No abstract available

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References

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    1. Balestra D, Barbon E, Scalet D, et al. Regulation of a strong F9 cryptic 5’ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides. Hum Mol Genet. 2015;24(17):4809–4916. - PMC - PubMed
    1. Tajnik M, Rogalska ME, Bussani E, et al. Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PLoS Genet. 2016;12(5):e1006082. - PMC - PubMed
    1. Garagiola I, Seregni S, Mortarino M, et al. A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect. Mol Genet Genomic Med. 2016;4(2):152–159. - PMC - PubMed
    1. Theophilus BD, Enayat MS, Williams MD, Hill FG. Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. Haemophilia. 2001;7(4):381–391. - PubMed