Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

Human Mutation

Volumn 30, Issue 3, 2009, Pages

  Wing, Yan Yik ^a   Steinberg, Steven J ^b,c   Moser, Ann B ^b,c   Moser, Hugo W ^b,c   Hacia, Joseph G ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Infantile Refsum disease; Neonatal adrenoleukodystrophy; PBD ZSS; Peroxisome biogenesis disorders; PEX1; PEX10; PEX12; PEX6; Zellweger syndrome

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL FUSION; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN GENOME; MAJOR CLINICAL STUDY; MUTATION RATE; NUCLEOTIDE SEQUENCE; PEROXISOME; PEROXISOME BIOGENESIS DISORDER; PEX1 GENE; PEX10 GENE; PEX12 GENE; PEX26 GENE; PEX6 GENE; PRIORITY JOURNAL; PROTEIN FUNCTION; ZELLWEGER SYNDROME;

ADENOSINE TRIPHOSPHATASES; ALLELES; CELL FUSION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MEMBRANE PROTEINS; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; RECEPTORS, CYTOPLASMIC AND NUCLEAR; ZELLWEGER SYNDROME;

EID: 61649120588     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20932     Document Type: Article

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