Results 271 to 280 of about 640,277 (286)

A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family

Scandinavian Cardiovascular Journal, 2009

exaly  

Strategies to Correct Nonsense Mutations

2016
Hana Benhabiles, Jieshuang Jia, Fabrice Lejeune   +2 more
openaire   +1 more source

A nonsense mutation in two German patients with fucosidosis

Human Mutation, 1995
H C, Seo, P H, Heidemann, E, Lutz, J S, O'Brien   +3 more
openaire   +2 more sources

Nonsense mutation-dependent reinitiation of translation in mammalian cells

Nucleic Acids Research, 2019
Eyal Arbely
exaly  

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

British Journal of Haematology, 2001
Rosanna Asselta, Pier Mannuccio Mannucci, Richard van Wijk   +2 more
exaly  

Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion

Journal of Cell Biology, 2000
Steve D Wilton, G E Morris, G E Morris
exaly  

Nonsense Mutation

2009
openaire   +1 more source

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

Journal of Clinical Lipidology, 2017
Antonina Giammanco, Carlo M. Barbagallo, Davide Noto   +2 more
exaly  

Nonsense Mutations and tRNA Suppressors

Biochemical Society Transactions, 1980
openaire   +1 more source

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

Neuromuscular Disorders, 1999
Claudio Bruno, A L Andreu, Sara Shanske
exaly