Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

J Inherit Metab Dis. 1999 May;22(3):311-3. doi: 10.1023/a:1005599903632.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Aspartic Acid / genetics
  • Child
  • Glycine / genetics
  • Humans
  • Infant
  • Membrane Proteins / genetics*
  • Microbodies
  • Mutation*
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Disorders / physiopathology
  • Phenotype
  • Zellweger Syndrome / genetics
  • Zellweger Syndrome / physiopathology

Substances

  • Membrane Proteins
  • Aspartic Acid
  • ATPases Associated with Diverse Cellular Activities
  • PEX1 protein, human
  • Glycine