Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 361-365

  Shi, Zheng Zheng ^a   Habib, Geetha M ^a   Rhead, William J ^b   Gahl, William A ^c   He, Xiangwei ^a   Sazer, Shelley ^a   Lieberman, Michael W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTATHIONE SYNTHASE; PYROGLUTAMIC ACID; RECOMBINANT PROTEIN;

ANEMIA; ARTICLE; BINDING SITE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA SEQUENCE; ERYTHROCYTE; ESCHERICHIA COLI; FEMALE; GENETIC COMPLEMENTATION; GENETICS; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING; SCHIZOSACCHAROMYCES;

AMINO ACID METABOLISM, INBORN ERRORS; ANEMIA; BINDING SITES; ERYTHROCYTES; ESCHERICHIA COLI; FEMALE; GENETIC COMPLEMENTATION TEST; GLUTATHIONE SYNTHASE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PYRROLIDONECARBOXYLIC ACID; RECOMBINANT PROTEINS; RNA SPLICING; SCHIZOSACCHAROMYCES; SEQUENCE ANALYSIS, DNA;

EID: 0030292360     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-361     Document Type: Article

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