A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Blood Platelets / cytology
  • Blood Platelets / metabolism*
  • Consanguinity
  • Family Health
  • Female
  • Humans
  • Male
  • Megakaryocytes / cytology
  • Megakaryocytes / metabolism*
  • Mutation*
  • Nucleotide Transport Proteins / genetics*
  • Pedigree
  • Siblings

Substances

  • Nucleotide Transport Proteins
  • SLC35A1 protein, human