Skip to search formSkip to main contentSkip to account menu

Nonsense mutation

Known as: Nonsense, Mutations, Nonsense, Nonsense Mutations 
A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
To the Editor: The majority of the gene variants discovered by nextgeneration sequencing (NGS) projects are either intronic or… 
Highly Cited
2007
Highly Cited
2007
Nonsense mutations promote premature translational termination and cause anywhere from 5–70% of the individual cases of most… 
Highly Cited
2005
Highly Cited
2005
The low-density lipoprotein receptor (LDLR) prevents hypercholesterolemia and atherosclerosis by removing low-density lipoprotein… 
Highly Cited
2004
Highly Cited
2004
We describe here a multiplexed protein quantitation strategy that provides relative and absolute measurements of proteins in… 
Highly Cited
2004
Highly Cited
2004
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia… 
Review
2002
Review
2002
Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the… 
Highly Cited
2001
Highly Cited
2001
The functional architecture of the object vision pathway in the human brain was investigated using functional magnetic resonance… 
Highly Cited
1999
Highly Cited
1999
Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental… 
Highly Cited
1974
Highly Cited
1974
With a stepwise degradation and terminal labeling procedure the 3'-terminal sequence of E. coli 16S ribosomal RNA is shown to be… 
Highly Cited
1956
Highly Cited
1956
First, the span of absolute judgment and the span of immediate memory impose severe limitations on the amount of information that…