title: Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
authors.affiliation: Laboratory of Medical Genetics, A. O. V. CERVELLO, via Trabucco, 180, 90146, Palermo, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Fabiano
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.forename: Pietro
authors.initials: P
authors.lastname: Sammarco
mesh_terms: D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; C078147:F8 protein, human; D005169:Factor VIII