Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay

Journal of Inherited Metabolic Disease

Volumn 26, Issue 6, 2003, Pages 601-605

  Haberle J ^a   Denecke, J ^a   Schmidt, E ^a   Koch, H G ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYCLOHEXIMIDE; GLUTAMATE ACETYLTRANSFERASE; THYMINE;

ALLELE; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC TRANSCRIPTION; HUMAN; NEWBORN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA SPLICING; STOP CODON;

ACETYLTRANSFERASES; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO-ACID N-ACETYLTRANSFERASE; CELLS, CULTURED; CODON; CODON, NONSENSE; CYCLOHEXIMIDE; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; PROTEIN SYNTHESIS INHIBITORS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0142244227     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025912417548     Document Type: Article

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