CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient

Pathology. 2011 Jan;43(1):81-3. doi: 10.1097/PAT.0b013e3283419dbb.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Asian People / genetics
  • Cystathionine beta-Synthase / deficiency
  • Cystathionine beta-Synthase / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Heterozygote
  • Homocystinuria / enzymology*
  • Homocystinuria / genetics
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Pyridoxine / therapeutic use*
  • Vitamin B Complex / therapeutic use*

Substances

  • Vitamin B Complex
  • Cystathionine beta-Synthase
  • Pyridoxine