title: Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.
authors.affiliation: CEINGE-Biotecnologie Avanzate, Naples Dipartimento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Sanna
authors.forename: C
authors.initials: C
authors.lastname: Ceglia
authors.forename: M
authors.initials: M
authors.lastname: Tarsitano
authors.forename: B
authors.initials: B
authors.lastname: Lombardo
authors.forename: A
authors.initials: A
authors.lastname: Coppola
authors.forename: F
authors.initials: F
authors.lastname: Zarrilli
authors.forename: G
authors.initials: G
authors.lastname: Castaldo
authors.forename: G
authors.initials: G
authors.lastname: Di Minno
mesh_terms: D001777:Blood Coagulation / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D017353:Gene Deletion; D020440:Gene Duplication; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007438:Introns; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D057345:Sequence Inversion; D012720:Severity of Illness Index
chemical_list: C078147:F8 protein, human; D005169:Factor VIII