Identification of a common PEX1 mutation in Zellweger syndrome

Human Mutation

Volumn 14, Issue 1, 1999, Pages 45-53

  Collins, Cynthia S ^a   Gould, Stephen J ^a  

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

Author keywords

Mutation; Peroxisome; PEX1; PMP70; Zellweger syndrome

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; AUTORADIOGRAPHY; GENE EXPRESSION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PEROXISOME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFSUM DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ZELLWEGER SYNDROME;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; EXONS; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HAPLOTYPES; HUMANS; MEMBRANE PROTEINS; MICROBODIES; MUTATION; OLIGONUCLEOTIDES; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; ZELLWEGER SYNDROME;

EID: 0033061268     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J     Document Type: Article

References (20)

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