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Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease

✍ Scribed by Karam, Rachid; Wengrod, Jordan; Gardner, Lawrence B.; Wilkinson, Miles F.

Book ID
120191986
Publisher
Elsevier
Year
2013
Tongue
English
Weight
668 KB
Volume
1829
Category
Article
ISSN
1874-9399

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## Abstract Nonsense‐mediated mRNA decay (NMD) is an mRNA surveillance system that eliminates aberrant mRNAs containing premature translation termination codons (PTCs). We evaluated the role of NMD in of Ullrich's disease. The patient has a frameshift mutation with a PTC in the collagen VI Ξ±2 gene