Haemophilia A: Database of Nucleotide Substitutions, Deletions, Insertions and Rearrangements of the Factor VIII Gene, Second Edition
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A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
Richter C, Raghunath A, Griffin M, Yaman M, Arruda V, Samelson-Jones B bioRxiv. 2025; .
PMID: 39896458 PMC: 11785011. DOI: 10.1101/2024.02.28.582609.
Systematic molecular analysis of hemophilia A patients from Colombia.
Yunis L, Linares A, Cabrera E, Yunis J Genet Mol Biol. 2018; 41(4):750-757.
PMID: 30534853 PMC: 6415612. DOI: 10.1590/1678-4685-GMB-2017-0072.
microRNAs and genetic diseases.
Meola N, Gennarino V, Banfi S Pathogenetics. 2009; 2(1):7.
PMID: 19889204 PMC: 2778645. DOI: 10.1186/1755-8417-2-7.
Tsai Y, Jin Z, Johnson K Anal Biochem. 2008; 384(1):136-44.
PMID: 18834851 PMC: 3045965. DOI: 10.1016/j.ab.2008.09.006.
Young M, Inaba H, HOYER L, Higuchi M, Kazazian Jr H, Antonarakis S Am J Hum Genet. 1997; 60(3):565-73.
PMID: 9042915 PMC: 1712533.