Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene

Adv Exp Med Biol. 2003:544:71. doi: 10.1007/978-1-4419-9072-3_10.
No abstract available

MeSH terms

  • Chondrodysplasia Punctata, Rhizomelic / genetics
  • Founder Effect
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Japan
  • Mutation
  • Peroxins
  • Peroxisomal Disorders / genetics*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Zellweger Syndrome / genetics

Substances

  • PEX10 protein, human
  • Peroxins
  • Receptors, Cytoplasmic and Nuclear