Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 5, 2003, Pages 1824-1829

  Hu, Xiaofeng ^a   Peek, Ron ^a   Plomp, Astrid ^a,b   Ten Brink, Jacoline ^a   Scheffer, George ^c   Van Soest, Simone ^a   Leys, Anita ^d   De Jong, Paulus T V M ^a,e,f   Bergen, Arthur A B ^a,b  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY AMSTERDAM   (Netherlands)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABCC6 GENE; ALLELE; ARTICLE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LEUKOCYTE; MAJOR CLINICAL STUDY; MUTATION RATE; NETHERLANDS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST; SOUTHERN BLOTTING;

ALLELES; ANTIBODIES, MONOCLONAL; BLOTTING, SOUTHERN; CELLS, CULTURED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; LEUKOCYTES; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; NETHERLANDS; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PSEUDOXANTHOMA ELASTICUM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN;

EID: 0037407968     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0981     Document Type: Article

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