Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 308-312

  Linnebank, M ^a   Homberger, A ^a   Rapp, B ^a   Winter, C ^a   Marquardt, T ^a   Harms, E ^a   Koch, H G ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ARGININOSUCCINATE LYASE; BENZOIC ACID; CITRIC ACID;

CARBOHYDRATE INTAKE; CASE REPORT; CONFERENCE PAPER; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; HEPATOMEGALY; HUMAN; INFANT; NEWBORN; ONSET AGE; PRESCHOOL CHILD; PROTEIN RESTRICTION; PSYCHOMOTOR RETARDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; CHILD, PRESCHOOL; HEPATOMEGALY; HUMANS; HYPERAMMONEMIA; POINT MUTATION; PSYCHOMOTOR DISORDERS; RNA SPLICING; SODIUM BENZOATE;

EID: 0034129777     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005690005439     Document Type: Conference Paper

References (10)

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