Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene

Chin Med J (Engl). 2018 Oct 5;131(19):2368-2370. doi: 10.4103/0366-6999.241801.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Cystathionine beta-Synthase / genetics*
  • Heterozygote
  • Humans
  • Hyperhomocysteinemia / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation / genetics

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Cystathionine beta-Synthase