Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines

Human Mutation

Volumn 30, Issue 1, 2009, Pages 93-98

  Ebberink, Merel S ^a   Mooyer, Petra A W ^a   Koster, Janet ^a   Dekker, Conny J M ^a   Eyskens, François J M ^b   Dionisi Vici, Carlo ^c   Clayton, Peter T ^d   Barth, Peter G ^a   Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Peroxisomes; Pex genes; Protein import; Targeting; Zellweger syndrome

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; CATALASE; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; GREEN FLUORESCENT PROTEIN; VERY LONG CHAIN FATTY ACID;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; BIOGENESIS; CONTROLLED STUDY; ENZYME ACTIVITY; FATTY ACID OXIDATION; FIBROBLAST CULTURE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; OXIDATION; PEROXISOME; PEX5 GENE; PRIORITY JOURNAL; PROTEIN TRANSPORT; PROTEIN VARIANT;

AMINO ACID SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GENOTYPE; GREEN FLUORESCENT PROTEINS; HUMANS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; PHENOTYPE; PROTEIN TRANSPORT; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANSFECTION;

EID: 58349115204     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20833     Document Type: Article

References (27)

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