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Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction

Academic Article
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Overview

authors

  • Dahl, N.
  • Pigg, M.
  • Ristoff, E.
  • Gali, R.
  • Carlsson, B.
  • Mannervik, Bengt
  • Larsson, A.
  • Board, P.

publication date

  • 1997

journal

  • Human Molecular Genetics  Journal

subject areas

  • Acidosis
  • Adult
  • Amino Acid Metabolism, Inborn Errors
  • Amino Acid Sequence
  • Anemia, Hemolytic
  • Animals
  • Blotting, Southern
  • Child, Preschool
  • Glutathione Synthase
  • Humans
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation
  • Nervous System Diseases
  • Phenotype
  • Point Mutation
  • Polymerase Chain Reaction
  • Pyrrolidonecarboxylic Acid
  • Rats
  • Recombinant Proteins
  • Restriction Mapping
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Xenopus
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Identity

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/6.7.1147

PubMed ID

  • 9215686
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Additional Document Info

start page

  • 1147

end page

  • 1152

volume

  • 6

issue

  • 7

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