Significant liver disease in a patient with Y116H mutation in the MVK gene

Am J Med Genet A. 2011 Jun;155A(6):1461-4. doi: 10.1002/ajmg.a.33915. Epub 2011 May 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • Hepatitis / drug therapy
  • Hepatitis / genetics*
  • Hepatitis / pathology*
  • Humans
  • Infant, Newborn
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenotype*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Sequence Analysis, DNA

Substances

  • Interleukin 1 Receptor Antagonist Protein
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase