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A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.

AuthorsN Shimozawa, Y Suzuki, S Tomatsu, H Nakamura, T Kono, H Takada, T Tsukamoto, Y Fujiki, T Orii, N Kondo
JournalHuman mutation (Hum Mutat) Vol. Suppl 1 Pg. S134-6 ( 1998) ISSN: 1059-7794 [Print] United States
PMID9452066 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Terminator
  • Membrane Proteins
  • Peroxisomal Biogenesis Factor 2
  • DNA
  • Arginine
Topics
  • Arginine
  • Codon, Terminator (genetics)
  • DNA (chemistry, genetics)
  • DNA Mutational Analysis
  • Family Health
  • Fatal Outcome
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Proteins (genetics)
  • Mutation
  • Pedigree
  • Peroxisomal Biogenesis Factor 2
  • Point Mutation
  • Zellweger Syndrome (genetics, pathology)

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