A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40°C

Journal of Human Genetics

Volumn 52, Issue 7, 2007, Pages 599-606

  Zeharia, Avraham ^a   Ebberink, Merel S ^b   Wanders, Ronald J A ^b   Waterham, Hans R ^b   Gutman, Alisa ^c   Nissenkorn, Andreea ^a   Korman, Stanley H ^c  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Cholestasis; Complementation; Infantile Refsum disease; Mosaicism; Mutation analysis; Peroxisomal biogenesis disorder; Peroxisome; PEX12 gene

Indexed keywords

BILE ACID; CATALASE; DNA; GENE PRODUCT; PROTEIN PEX12; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

AMINO TERMINAL SEQUENCE; ARTICLE; BILE ACID BLOOD LEVEL; BIOCHEMISTRY; CASE REPORT; CHOLESTASIS; DISEASE EXACERBATION; DISORDERS OF PEROXISOMAL FUNCTIONS; ETHNICITY; FATTY ACID BLOOD LEVEL; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PARAMETERS; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERBILIRUBINEMIA; IMMUNOFLUORESCENCE; INFANT; MALE; MISSENSE MUTATION; MOSAICISM; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEROXISOME; PHENOTYPE; TEMPERATURE;

CATALASE; CELLS, CULTURED; CHILD, PRESCHOOL; CHOLESTASIS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HEAT; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MOSAICISM; PEROXISOMES; PHENOTYPE; REFSUM DISEASE, INFANTILE;

EID: 34347360691     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0157-y     Document Type: Article

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