Mutations in ABCC6 cause pseudoxanthoma elasticum

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 228-231

  Bergen, Arthur A B ^a   Plomp, Astrid S ^a,b   Schuurman, Ellen J ^a   Terry, Sharon ^c   Breuning, Martijn ^d   Dauwerse, Hans ^d   Swart, Jaap ^a   Kool, Marcel ^b   Van Soest, Simone ^a   Baas, Frank ^b   Ten Brink, Jacoline B ^a   De Jong, Paulus T V M ^a,e,f  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b Department of Clinical Genetics ^*  (Netherlands)

^c PXE International Inc   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 16P; CLINICAL FEATURE; CYTOGENETICS; GENE MAPPING; GENE MUTATION; HISTOPATHOLOGY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION PROFILING; GENES, DOMINANT; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PSEUDOXANTHOMA ELASTICUM; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0034123093     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/76109     Document Type: Article

References (23)

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