Results 261 to 270 of about 747,509 (280)

Nonsense Mutation

2001
openaire   +1 more source

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII

Journal of Thrombosis and Haemostasis, 2006
Rosario Rizzuto, Paolo Pinton, Mirko Pinotti   +2 more
exaly  

Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor.

American Journal of Respiratory Cell and Molecular Biology, 2014
Steven M Rowe, Timor Baasov, David M Bedwell   +2 more
exaly  

Nonsense Mutation

2005
openaire   +1 more source

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Brain, 2019
Maria Teresa Dotti, Danique Beijer, Jonathan Baets   +2 more
exaly  

Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay

Experimental Eye Research, 2016
Theodore G. Wensel, John Hardie Wilson
exaly  

Familial Hypertrophic Cardiomyopathy : Nonsense Versus Missense Mutations

Circulation, 1995
Ketty Schwartz
exaly  

Mutation, Nonsense

2013
openaire   +1 more source

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