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Amber Nonsense Mutation

Known as: Nonsense Mutations, Amber, Nonsense Mutation, Amber, Mutations, Amber Nonsense 
National Institutes of Health

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1 relation
Codon, Nonsense

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Suppression of Nonsense Mutations by New Emerging Technologies
Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a… 
Review
2020
Review
2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting… 
2017
2017
Point Nonsense Mutations in BRD2 gene of Juvenile Myoclonic Epilepsy (JME) patients: A study from Dravidian Linguistic Population in South Indian Population
2017
2017
Point Nonsense Mutations in BRD2 gene of Juvenile Myoclonic Epilepsy (JME) patients: A study from Dravidian Linguistic South Indian Population
INTRODUCTION JME is a genetically determined an idiopathic generalized epilepsy (IGE) syndrome and probably involves multiple… 
Highly Cited
2011
Highly Cited
2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Highly Cited
2007
Highly Cited
2007
Nonsense Mutations in hERG Cause a Decrease in Mutant mRNA Transcripts by Nonsense-Mediated mRNA Decay in Human Long-QT Syndrome
Background— Long-QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG). More than 30… 
Highly Cited
2002
Highly Cited
2002
Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease consisting of oculocutaneous albinism and a storage pool… 
2001
2001
Nonsense Mutations in cspA Cause Ribosome Trapping Leading to Complete Growth Inhibition and Cell Death at Low Temperature in Escherichia coli *
CspA, the major cold shock protein ofEscherichia coli, is dramatically induced immediately after cold shock. CspA production is… 
Highly Cited
1992
Highly Cited
1992
Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product.
mRNAs R1 and R2 of the autonomous parvovirus minute virus of mice (MVM), which encode the viral nonstructural proteins NS1 and… 
1965
1965
AMINO ACID SUBSTITUTIONS RESULTING FROM SUPPRESSION OF NONSENSE MUTATIONS. I. SERINE INSERTION BY THE SU-1 SUPPRESSOR GENE.
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