title: Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
authors.forename: Bruno
authors.initials: B
authors.lastname: Drera
authors.forename: Andrea
authors.initials: A
authors.lastname: Brezzi
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Zoppi
authors.forename: Marina
authors.initials: M
authors.lastname: Venturini
authors.forename: Sergio
authors.initials: S
authors.lastname: Barlati
authors.forename: Pier Giacomo Calzavara
authors.initials: PG
authors.lastname: Pinton
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D012008:Recurrence
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human