Mutation analysis in patients with N-acetylglutamate synthase deficiency

Human Mutation

Volumn 21, Issue 6, 2003, Pages 593-597

  Häberle, Johannes ^a   Schmidt, Eva ^a   Pauli, Silke ^a   Kreuder, Joachim Gerhard ^b   Plecko, Barbara ^c   Galler, Axel ^d   Wermuth, Benedicht ^e   Harms, Erik ^a   Koch, Hans Georg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL GIESSEN   (Germany)

^c UNIVERSITY HOSPITAL GRAZ   (Austria)

^d KLINIKUM KONSTANZ   (Germany)

^e UNIVERSITY OF BERN   (Switzerland)

Author keywords

Glutamate N acetyltransferase; Hyperammonemia; NAGS; Urea cycle

Indexed keywords

COMPLEMENTARY DNA; GLUTAMATE ACETYLTRANSFERASE; MESSENGER RNA; POLYPEPTIDE;

ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC GROUP; FAMILY STUDY; GENE MUTATION; GENOME; GENOTYPE; HUMAN; HYPERAMMONEMIA; INFANT; KIDNEY; LIVER; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SMALL INTESTINE; UREA CYCLE;

ACETYLTRANSFERASES; AGE OF ONSET; AMINO-ACID N-ACETYLTRANSFERASE; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; EXONS; GENE EXPRESSION PROFILING; GENETIC COMPLEMENTATION TEST; GERMANY; HUMANS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; ORGAN SPECIFICITY; PROTEIN SORTING SIGNALS; RNA, MESSENGER; SLOVENIA; TURKEY;

ASCOMYCOTA;

EID: 0037903266     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10216     Document Type: Article

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