title: Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor.
abstract: Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14-26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15-18 and spanning about 13kb, was identified and characterized in one patient with anti-factor VIII antibodies.
authors.affiliation: Dipartimento di Genetica e Microbiologia, Università di Pavia, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Bardoni
authors.forename: M
authors.initials: M
authors.lastname: Sampietro
authors.forename: M
authors.initials: M
authors.lastname: Romano
authors.forename: M
authors.initials: M
authors.lastname: Crapanzano
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
authors.forename: G
authors.initials: G
authors.lastname: Camerino
mesh_terms: D000906:Antibodies / Q000032:analysis; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005091:Exons; D005169:Factor VIII / Q000235:genetics* / Q000276:immunology; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D000906:Antibodies; D005169:Factor VIII; D004247:DNA; D004262:DNA Restriction Enzymes