Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

American Journal of Human Genetics

Volumn 70, Issue 3, 2002, Pages 612-624

  Motley, Alison M ^a   Brites, Pedro ^a   Gerez, Lisya ^a   Hogenhout, Eveline ^a   Haasjes, Janet ^a   Benne, Rob ^a   Tabak, Henk F ^a   Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSOL RECEPTOR; LUCIFERASE; NUCLEOTIDE; PEROXIN; PEROXIN 7; PEROXISOMAL TARGETING SIGNAL TYPE 2; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIFICATION; CATARACT; CHONDRODYSPLASIA PUNCTATA; CODON; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOPLASM; DISEASE SEVERITY; FIBROBLAST; FRAMESHIFT MUTATION; FUNCTIONAL ASSESSMENT; GENE; GENE DUPLICATION; GENE MUTATION; GENE OVEREXPRESSION; GENE PEX7; GENETIC CODE; HUMAN; JOINT CONTRACTURE; LONG BONE; MAJOR CLINICAL STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEQUENCE ANALYSIS;

ANIMALIA;

EID: 0036178209     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/338998     Document Type: Article

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