Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

Human Mutation

Volumn 15, Issue 6, 2000, Pages 509-521

  Warren, Daniel S ^a   Wolfe, Brian D ^a   Gould, Stephen J ^a  

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

Author keywords

Neonatal adrenoleukodystrophy; Organelle assembly; PEX10; Protein import; Zellweger Syndrome

Indexed keywords

COMPLEMENTARY DNA; MATRIX PROTEIN; RNA;

ADRENOLEUKODYSTROPHY; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FRAMESHIFT MUTATION; GENETIC COMPLEMENTATION; GENOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONSENSE MUTATION; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; ZELLWEGER SYNDROME;

EID: 0034089490     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200006)15:6<509::aid-humu3>3.0.co;2-%23     Document Type: Article

References (34)

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