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

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1147-1152

  Dahl, Niklas ^a   Pigg, Maritta ^a   Ristoff, Ellinor ^b   Gali, Rayappa ^c   Carlsson, Birgit ^a   Mannervik, Bengt ^d   Larsson, Agne ^b   Board, Philip ^c  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c Australian National University   (Australia)

^d UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; GLUTATHIONE; GLUTATHIONE SYNTHASE; MUTANT PROTEIN; PYROGLUTAMIC ACID; RECOMBINANT PROTEIN;

AMINOACIDURIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GLUTATHIONE METABOLISM; HEMOLYTIC ANEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; NEUROLOGIC DISEASE; PRIORITY JOURNAL;

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;

EID: 0030876935     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1147     Document Type: Article

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