Investigation of citrullinemia type I variants by in vitro expression studies

Human Mutation

Volumn 29, Issue 10, 2008, Pages 1222-1227

  Berning, Christoph ^a   Bieger, Iris ^b,c   Pauli, Silke ^a,f   Vermeulen, Tim ^a   Vogl, Thomas ^a   Rummel, Till ^a   Höhne, Wolfgang ^e   Koch, Hans Georg ^a   Rolinski, Boris ^b   Gempel, Klaus ^b,d   Häberle, Johannes ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Institut fur Klinische Chemie   (Germany)

^c Labor Becker   (Germany)

^d Labor Bamberg   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Argininosuccinate synthetase; ASS; Bacterial expression study; Mild citrullinemia; Urea cycle

Indexed keywords

ARGININOSUCCINATE SYNTHASE; ASPARTIC ACID; CITRULLINE;

ARTICLE; CATABOLISM; CITRULLINEMIA; COMA; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERAMMONEMIA; IN VITRO STUDY; MAJOR CLINICAL STUDY; METABOLIC DISORDER; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR;

ADULT; ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; DNA, COMPLEMENTARY; ESCHERICHIA COLI; FEMALE; GENE EXPRESSION; GENETIC VARIATION; GENOTYPE; HUMANS; MUTATION;

BACTERIA (MICROORGANISMS);

EID: 55349114038     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20784     Document Type: Article

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