Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

Nature Genetics

Volumn 15, Issue 4, 1997, Pages 381-384

  Purdue, P Edward ^a   Zhang, Jing Wei ^a   Skoneczny, Marek ^a   Lazarow, Paul B ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; CELL PROTEIN; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; PEROXISOME PROTEIN; PLASMALOGEN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PEROXISOME; PRIORITY JOURNAL; PROTEIN TARGETING; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; DNA, COMPLEMENTARY; FIBROBLASTS; GENE EXPRESSION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECOMBINANT FUSION PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

SACCHAROMYCES CEREVISIAE;

EID: 1842335689     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0497-381     Document Type: Article

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