Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Nature Genetics

Volumn 15, Issue 4, 1997, Pages 377-380

  Motley, Alison M ^a   Hettema, Ewald H ^a   Hogenhout, Eveline M ^a   Brites, Pedro ^a   Ten Asbroek, Anneloor L M A ^a   Wijburg, Frits A ^a   Baas, Frank ^a   Heijmans, Hugo S ^a   Tabak, Henk F ^a   Wanders, Ronald J A ^a   Distel, Ben ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; CELL PROTEIN; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; PEROXISOME PROTEIN; PHYTANIC ACID; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; KLUYVEROMYCES; NONHUMAN; OPEN READING FRAME; PEROXISOME; PRIORITY JOURNAL; PROTEIN TARGETING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; CLONING, MOLECULAR; DNA, COMPLEMENTARY; FIBROBLASTS; GENE EXPRESSION; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

KLUYVEROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0031003680     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0497-377     Document Type: Article

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