SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases

Clin Genet. 2007 Mar;71(3):288-9. doi: 10.1111/j.1399-0004.2007.00759.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence
  • Chylomicrons / metabolism*
  • Guanine Nucleotide Exchange Factors / genetics*
  • Homozygote
  • Humans
  • Hypobetalipoproteinemia, Familial, Apolipoprotein B / genetics*
  • Male
  • Molecular Sequence Data
  • Monomeric GTP-Binding Proteins / genetics*
  • Mutation*
  • Pedigree
  • Sequence Analysis, DNA
  • Spinocerebellar Degenerations / genetics*
  • Vitamin E / blood

Substances

  • Chylomicrons
  • Guanine Nucleotide Exchange Factors
  • SIL1 protein, human
  • Vitamin E
  • SAR1B protein, human
  • Monomeric GTP-Binding Proteins