The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 80-86

  Eeds, A M ^a   Hall, L D ^a,b   Yadav, M ^b   Willis, A ^a   Summar, S ^a   Putnam, A ^a   Barr, F ^b   Summar, M L ^a,b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY   (United States)

Author keywords

CPSI; Nonsense mediated decay; Premature termination codon; RNA; Splicing defects

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; COMPLEMENTARY DNA; DNA; RNA;

ALLELE; ARTICLE; CARBAMOYL PHOSPHATE SYNTHASE I DEFICIENCY; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENETIC SCREENING; GENOME ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NORTHERN BLOTTING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA DEGRADATION; RNA PROCESSING; RNA SPLICING; STOP CODON;

ALLELES; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA STABILITY; RNA, MESSENGER;

EID: 33746978173     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.006     Document Type: Article

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