Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux, O; Urban, Z; Tschuch, C; Csiszar, K; Bacchelli, B; Quaglino, D; Pasquali-Ronchetti, I; Pope, F M; Richards, A; Terry, S; Bercovitch, L; de Paepe, A; Boyd, C D

Le Saux, O; Urban, Z; Tschuch, C; Csiszar, K; Bacchelli, B; Quaglino, D; Pasquali-Ronchetti, I; Pope, F M; Richards, A; Terry, S; Bercovitch, L; de Paepe, A; Boyd, C D.

Affiliation

Le Saux O; Laboratory of Matrix Pathobiology, Pacific Biomedical Research Center, University of Hawai'i, Honolulu, Hawai'i, USA.

Nat Genet ; 25(2): 223-7, 2000 Jun.

Article in En | MEDLINE | ID: mdl-10835642

Subject(s)

ATP-Binding Cassette Transporters/genetics; Mutation/genetics; Pseudoxanthoma Elasticum/genetics; ATP-Binding Cassette Transporters/chemistry; Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 16/genetics; Cohort Studies; Consanguinity; DNA Mutational Analysis; Exons/genetics; Female; Fibroblasts/metabolism; Genetic Linkage/genetics; Genotype; Humans; Male; Microsatellite Repeats/genetics; Multidrug Resistance-Associated Proteins; Pedigree; Phenotype; Polymorphism, Single Nucleotide/genetics; Protein Conformation; Pseudoxanthoma Elasticum/pathology; RNA, Messenger/genetics; RNA, Messenger/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Pseudoxanthoma Elasticum / ATP-Binding Cassette Transporters / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2000 Type: Article Affiliation country: United States

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