title: High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations.
authors.affiliation: Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, The Netherlands.
authors.forename: Francesca
authors.initials: F
authors.lastname: Nuzzo
authors.affiliation: Child Health Department, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.|Queen's Medical Centre, Nottingham University Hospitals' NHS Trust, Nottingham, UK.
authors.forename: Ismail
authors.initials: I
authors.lastname: Beshlawi
authors.affiliation: Child Health Department, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.|Alexandria University Children's Hospital, Alexandria, Egypt.
authors.forename: Yasser
authors.initials: Y
authors.lastname: Wali
authors.affiliation: Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, The Netherlands.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Castoldi
mesh_terms: D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology* / Q000517:prevention & control; D009154:Mutation; D010375:Pedigree; D022821:RNA Splice Sites; D012326:RNA Splicing; D012720:Severity of Illness Index
chemical_list: D022821:RNA Splice Sites; D005165:Factor V
keywords: Factor V deficiency; bleeding; intracranial haemorrhage; mutation; splicing