A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population

Hum Mutat. 1999 Sep 19;14(3):271.
No abstract available

MeSH terms

  • Alanine / genetics
  • Base Sequence
  • Humans
  • Japan
  • Lipase / genetics*
  • Lysosomes / enzymology*
  • Mutation, Missense
  • Polymorphism, Genetic
  • Reverse Transcriptase Polymerase Chain Reaction
  • Threonine / genetics

Substances

  • Threonine
  • Lipase
  • Alanine