ABCC6/MRP6 mutations: Further insight into the molecular pathology of pseudoxanthoma elasticum

European Journal of Human Genetics

Volumn 11, Issue 3, 2003, Pages 215-224

  Hu, Xiaofeng ^a   Plomp, Astrid ^a,b   Wijnholds, Jan ^a   ten Brink, Jacoline ^a   van Soest, Simone ^a   van den Born, L Ingeborgh ^c   Leys, Anita ^d   Peek, Ron ^a   de Jong, Paulus T V M ^a,b,e   Bergen, Arthur A B ^a,b  

^a ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ROTTERDAM EYE HOSPITAL   (Netherlands)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

ABCC6 MRP6 gene; Molecular pathology; Mutation; Pseudoxanthoma elasticum; PXE

Indexed keywords

MULTIDRUG RESISTANCE PROTEIN 6;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; ELASTIC FIBER; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; MUTATION RATE; NETHERLANDS; NUCLEOTIDE BINDING SITE; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PSEUDOXANTHOMA ELASTICUM; SKIN DEFECT; VISUAL IMPAIRMENT;

ADULT; AMINO ACID SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PROTEIN CONFORMATION; PSEUDOXANTHOMA ELASTICUM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0037367740     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200953     Document Type: Article

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