A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

American Journal of Human Genetics

Volumn 69, Issue 4, 2001, Pages 749-764

  Saux, Olivier Le ^a   Beck, Konstanze ^a   Sachsinger, Christine ^a   Silvestri, Chiara ^a,b   Treiber, Carina ^a   Goöring, Harald H H ^c   Johnson, Eric W ^d   De Paepe, Anne ^e   Pope, F Michael ^f   Pasquali Ronchetti, Ivonne ^b   Bercovitch, Lionel ^g   Terry, Sharon ^h   Boyd, Charles D ^a  

^a UNIVERSITY OF HAWAII   (United States)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c Department of Genetics   (United States)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g BROWN UNIVERSITY   (United States)

^h PXE International Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER C6; GENE PRODUCT; NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CARBOXY TERMINAL SEQUENCE; COHORT ANALYSIS; EUROPE; EXON; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; UNITED STATES;

EID: 0034835028     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323704     Document Type: Article

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