Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Human Mutation

Volumn 32, Issue 1, 2011, Pages 59-69

  Ebberink, Merel S ^a   Mooijer, Petra A W ^a   Gootjes, Jeannette ^a   Koster, Janet ^a   Wanders, Ronald J A ^a   Waterham, Hans R ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Biogenesis; Genetic complementation; Peroxisome; PEX genes; Zellweger syndrome

Indexed keywords

COMPLEMENTARY DNA; MACROGOL;

ARTICLE; BIOGENESIS; DNA TRANSFECTION; FIBROBLAST; GENE; GENETIC COMPLEMENTATION; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEROXISOME; PEX GENE; PEX1 GENE; PEX10 GENE; PEX12 GENE; PEX13 GENE; PEX14 GENE; PEX16 GENE; PEX19 GENE; PEX2 GENE; PEX26 GENE; PEX3 GENE; PEX5 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ZELLWEGER SYNDROME;

CELL LINE; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENOTYPE; HUMANS; MUTATION; PEROXISOMAL DISORDERS; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; ZELLWEGER SYNDROME;

EID: 78650546151     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21388     Document Type: Article

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