Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Human Mutation

Volumn 30, Issue 3, 2009, Pages 300-307

  Engel, Katharina ^a   Höhne, Wolfgang ^b   Häberle, Johannes ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Argininosuccinate synthetase; ASS; ASS1; Citrullinemia; Hyperammonemia; Inborn error of metabolism; Inherited metabolic disorder; Urea cycle

Indexed keywords

ARGININOSUCCINATE SYNTHASE; ENZYME;

BACTERIAL CELL; CHROMOSOME 9Q; CITRULLINEMIA; CORRELATION ANALYSIS; DISEASE COURSE; EXON; GENE MUTATION; GENETIC POLYMORPHISM; GEOGRAPHY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN FUNCTION; REVIEW;

AMINO ACID SEQUENCE; ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; HUMANS; HYPERAMMONEMIA; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

BACTERIA (MICROORGANISMS);

EID: 61649125385     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20847     Document Type: Review

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