Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

Human Mutation

Volumn 31, Issue 1, 2010, Pages

  Ebberink, Merel S ^a   Koster, Janet ^a   Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

AAA ATPase; Peroxisome biogenesis; PEX6; Zellweger syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINO ACID; COMPLEMENTARY DNA; NUCLEOTIDE;

ARTICLE; BIOGENESIS; DNA DETERMINATION; EXON; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PEROXISOME; PEX6 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FAMILY; SKIN FIBROBLAST; SPECTRUM; ZELLWEGER SYNDROME;

ADENOSINE TRIPHOSPHATASES; CELL LINE; CELLS, CULTURED; EXONS; FIBROBLASTS; HUMANS; MUTATION; PEROXISOMES; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; TRANSFECTION; TRANSITION TEMPERATURE; ZELLWEGER SYNDROME;

EID: 74049154817     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21153     Document Type: Article

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