A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 38-44

  Maxwell, Megan A ^a   Nelson, Paul V ^b   Chin, Sharon J ^b   Paton, Barbara C ^b   Carey, William F ^b   Crane, Denis I ^a  

^a GRIFFITH UNIVERSITY   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MUTANT PROTEIN;

ARTICLE; BIOGENESIS; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; HUMAN; HUMAN CELL; MALE; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST; ZELLWEGER SYNDROME;

EID: 0032789807     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900095     Document Type: Article

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