Novel human pathological mutations. Gene symbol: GCH1. Disease: dystonia, dopa-responsive

Hum Genet. 2010 Apr;127(4):482.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • Dystonic Disorders / enzymology
  • Dystonic Disorders / genetics
  • GTP Cyclohydrolase / genetics*
  • Humans
  • Mutation, Missense

Substances

  • Codon
  • GTP Cyclohydrolase

Supplementary concepts

  • Dystonia, Dopa-responsive