Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Clin Genet. 2012 Aug;82(2):197-200. doi: 10.1111/j.1399-0004.2011.01828.x. Epub 2011 Dec 29.
No abstract available

Publication types

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

MeSH terms

  • Abetalipoproteinemia / diagnosis
  • Abetalipoproteinemia / genetics*
  • Adolescent
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 4
  • Humans
  • Infant
  • Male
  • Models, Molecular
  • Mutation*
  • Protein Conformation
  • Uniparental Disomy*

Substances

  • Carrier Proteins
  • microsomal triglyceride transfer protein