Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease

J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):370-3. doi: 10.1097/mpg.0b013e318183188f.
No abstract available

Publication types

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

MeSH terms

  • Animals
  • Chylomicrons
  • Humans
  • Hypobetalipoproteinemias / genetics*
  • Infant
  • Lipoproteins / blood
  • Male
  • Monomeric GTP-Binding Proteins / genetics*
  • Mutation, Missense*
  • Triglycerides / blood

Substances

  • Chylomicrons
  • Lipoproteins
  • Triglycerides
  • SAR1B protein, human
  • Monomeric GTP-Binding Proteins