Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

Hum Mutat. 1994;4(2):150-4. doi: 10.1002/humu.1380040210.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Sequence
  • Arginase / genetics*
  • Arginine / blood*
  • Conserved Sequence
  • Exons
  • Humans
  • Hyperargininemia
  • Liver / enzymology*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

  • Arginine
  • Arginase