Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect

Am J Hum Genet. 1993 Apr;52(4):843-4.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenoleukodystrophy / genetics
  • DNA Mutational Analysis
  • Genetic Complementation Test
  • Humans
  • Membrane Proteins / genetics*
  • Metabolism, Inborn Errors / classification
  • Metabolism, Inborn Errors / genetics
  • Microbodies / enzymology
  • Microbodies / pathology*
  • Peroxisomal Biogenesis Factor 2
  • Point Mutation
  • Refsum Disease / genetics
  • Zellweger Syndrome / genetics*

Substances

  • Membrane Proteins
  • Peroxisomal Biogenesis Factor 2