title: Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Li
authors.forename: Sara
authors.initials: S
authors.lastname: Sadowski
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000793:Angioid Streaks / Q000235:genetics*; D000818:Animals; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human