A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x.
No abstract available

Publication types

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

MeSH terms

  • Acyl Coenzyme A / chemistry*
  • Adaptor Proteins, Signal Transducing / chemistry*
  • Adaptor Proteins, Signal Transducing / genetics*
  • Amino Acid Sequence
  • Exons
  • Female
  • Genes, Dominant
  • Genetic Variation
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins / chemistry*
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics*

Substances

  • ACBD5 protein, human
  • Acyl Coenzyme A
  • Adaptor Proteins, Signal Transducing
  • Membrane Proteins