title: A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba.
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Sebastian
authors.initials: S
authors.lastname: Marun
authors.forename: Silvia
authors.initials: S
authors.lastname: Vettore
authors.forename: Gilda
authors.initials: G
authors.lastname: Scaliter
authors.forename: Angelica
authors.initials: A
authors.lastname: Molina
authors.forename: Pamela
authors.initials: P
authors.lastname: Scarparo
authors.forename: Aldo
authors.initials: A
authors.lastname: Tabares
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Lombardi
mesh_terms: D000328:Adult; D001118:Argentina; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D016254:Mutagenesis, Insertional; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011288:Prekallikrein / Q000172:deficiency* / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D011288:Prekallikrein