Is There a phenotype/genotype Correlation in Peroxisome Biogenesis Disorders (PBDs)?

Adv Exp Med Biol. 2003;544:59-65. doi: 10.1007/978-1-4419-9072-3_7.

Publication types

  • Review

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Genotype
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Disorders / metabolism
  • Phenotype

Substances

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