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

Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML
Mol Genet Metab. 2006 89 (1-2): 80-6

PMID: 16737834 · DOI:10.1016/j.ymgme.2006.04.006

MeSH Terms (13)

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, Messenger RNA Stability

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