A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2

Blood. 2017 Jun 22;129(25):3392-3395. doi: 10.1182/blood-2017-03-773481. Epub 2017 May 5.
No abstract available

Publication types

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

MeSH terms

  • Activin Receptors, Type I / genetics*
  • Activin Receptors, Type I / physiology
  • Anemia, Iron-Deficiency / genetics*
  • Cells, Cultured
  • Child, Preschool
  • Female
  • GPI-Linked Proteins / physiology*
  • Hemochromatosis Protein
  • Hepcidins / biosynthesis*
  • Hepcidins / genetics
  • Heterozygote
  • Humans
  • Liver / metabolism
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mutation, Missense*
  • Myositis Ossificans / genetics*
  • Point Mutation
  • Serine Endopeptidases / genetics*
  • Serine Endopeptidases / physiology
  • Signal Transduction
  • Up-Regulation

Substances

  • GPI-Linked Proteins
  • HJV protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • Membrane Proteins
  • ACVR1 protein, human
  • Activin Receptors, Type I
  • Serine Endopeptidases
  • TMPRSS6 protein, human