PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease

Pediatric Research

Volumn 51, Issue 6, 2002, Pages 706-714

  Preuss, Natalie ^a   Brosius, Ute ^a   Biermanns, Martina ^a   Muntau, Ania C ^a   Conzelmann, Ernst ^a   Gärtner, Jutta ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PEROXIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; DISEASE SEVERITY; FATTY ACID OXIDATION; GENE DELETION; GENE MUTATION; GENETIC COMPATIBILITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; SINGLE NUCLEOTIDE POLYMORPHISM; ZELLWEGER SYNDROME;

EID: 0036103162     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200206000-00008     Document Type: Article

References (23)

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6. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
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8. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group 1
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18. DNA sequencing with chain-termination inhibitors
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22. PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases
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