Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 223-227

  Le Saux, Olivier ^a   Urban, Zsolt ^a   Tschuch, Cordula ^a   Csiszar, Katalin ^a   Bacchelli, Barbara ^b   Quaglino, Daniela ^b   Pasquali Ronchetti, Ivonne ^b   Pope, F Michael ^c   Richards, Allan ^c   Terry, Sharon ^d   Bercovitch, Lionel ^e   De Paepe, Anne ^f   Boyd, Charles D ^a  

^a UNIVERSITY OF HAWAII   (United States)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d PXE International Inc   (United States)

^e BROWN UNIVERSITY   (United States)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16P; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; MULTIDRUG RESISTANCE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 16; COHORT STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; PSEUDOXANTHOMA ELASTICUM; RNA, MESSENGER;

EID: 18844465976     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/76102     Document Type: Article

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