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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders… (More)
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Highly Cited
2010
Highly Cited
2010
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of… (More)
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Highly Cited
2007
Highly Cited
2007
Nonsense mutations promote premature translational termination and cause anywhere from 5–70% of the individual cases of most… (More)
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Highly Cited
2005
Highly Cited
2005
The low-density lipoprotein receptor (LDLR) prevents hypercholesterolemia and atherosclerosis by removing low-density lipoprotein… (More)
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Highly Cited
2004
Highly Cited
2004
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia… (More)
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Review
2004
Review
2004
Studies of nonsense-mediated mRNA decay in mammalian cells have proffered unforeseen insights into changes in mRNA–protein… (More)
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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… (More)
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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… (More)
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Highly Cited
1992
Highly Cited
1992
We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas… (More)
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Highly Cited
1956
Highly Cited
1956
My problem is that I have been persecuted by an integer. For seven years this number has followed me around, has intruded in my… (More)
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