A homozygous frameshift mutation in theESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency
Author:
Publisher
Wiley
Subject
Cell Biology,Clinical Biochemistry,Physiology
Reference24 articles.
1. , . 1997. The AGT Cytogenetics Laboratory Manual, 3rd Edition. Lippincott-Raven, editors.
2. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
3. Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans
4. Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia
5. Nonsense-mediated decay approaches the clinic
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