Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia

Hum Genet. 2005 Dec;118(3-4):545.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Brain Diseases / genetics*
  • Cerebral Ventricles / pathology
  • Choristoma / genetics
  • Codon, Nonsense
  • Contractile Proteins / genetics*
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / genetics*
  • Filamins
  • Humans
  • Microfilament Proteins / genetics*
  • Mutation, Missense*

Substances

  • Codon, Nonsense
  • Contractile Proteins
  • Filamins
  • Microfilament Proteins