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the known genescausingLGMDs , a nonsense mutation
This type of mutation ... one DNA base pairresultsin the Nonsense mutation
a potential for more nonsense mutations ... the ONLY sitewhere ... originatenonsense mutations
a single change in DNA that disrupts the normal cascade of events that changes a gene into messenger RNA , then into a protein(passive) are generally caused byNonsense mutations
missense mutations SNPscausingnonsense mutations
allele ... a single C - to - T nucleotide substitution in exon 3resultsin a nonsense mutation
point mutations , which generate premature stop codons(passive) are caused byNonsense mutations
by a nucleotide substitution or small insertion or deletion(passive) caused bynonsense mutations
a single C - to - T nucleotide substitution in exon 3resultsin a nonsense mutation
Single nucleotide substitutions ... ( stop codoncausingnonsense mutations
double - mutations(passive) caused bynonsense mutations
premature stop codon(passive) caused byNonsense mutations
The mutation is predictedto causenonsense mutation
Single nucleotide substitutionscausingnonsense mutations
the effects ... point mutations ... with this drugcausenonsense mutations
codons ... the ONLY sitewhere ... originatenonsense mutations
when random DNA code shows up in the middle of a gene , preventing it from beginning the process of manufacturing proteins in the cell(passive) are causedNonsense mutations
point mutations ... with this drugcausenonsense mutations
the effects ... point mutationscausenonsense mutations
a premature termination codon ( PTC(passive) caused bya nonsense mutation
by a premature termination codon ( PTC(passive) caused bya nonsense mutation
a point mutationresultsin a nonsense mutation
point mutationscausenonsense mutations
the ONLY sitewhere ... originatenonsense mutations
another known diseasecausingnonsense mutation
this substitutioncausednonsense mutations
12 SNPscausingnonsense mutations
A and Bresultnonsense mutations
The third ( Lebanese ) patient showed a single point mutation in exon 1leadingto a nonsense mutation
by the original mutation(passive) caused bythe nonsense mutation
A mutation called c.507delC which is the deletion of a cytosine at position 507resultedin a nonsense mutation
by base substitution(passive) caused bya nonsense mutation
a small deletioncausinga nonsense mutation
The substitution of a C - nucleotide with Acauseda nonsense mutation
The first substitutioncausinga nonsense mutation
This nucleotide changecausesa nonsense mutation
the protein truncationresultingfrom a nonsense mutation
at the deletioncausesa nonsense mutation
The sequencing profile shows a nucleotide substitution ( c.5693C > Tresultingin a nonsense mutation
a C to T substitutionresultedin a nonsense mutation
to a premature termination codon ( PTC ) and one missense mutation resulting in the substitution of a cysteine residueleadingto a premature termination codon ( PTC ) and one missense mutation resulting in the substitution of a cysteine residue
in a premature stop codon in the DMD gene and loss of functional dystrophin proteinresultsin a premature stop codon in the DMD gene and loss of functional dystrophin protein
in premature termination of translation and production of a truncated proteinresultsin premature termination of translation and production of a truncated protein
in premature translation termination and the production of a truncated proteinresultsin premature translation termination and the production of a truncated protein
in a premature stop and a truncated protein product lacking the kinase domainresultsin a premature stop and a truncated protein product lacking the kinase domain
an interruption of the reading frame by a premature stop codon , which results in a truncated proteincausingan interruption of the reading frame by a premature stop codon , which results in a truncated protein
to premature termination of a truncated protein productleadingto premature termination of a truncated protein product
to a stop codon in the coding region of the gene and thus to premature termination of the translationleadsto a stop codon in the coding region of the gene and thus to premature termination of the translation
in a premature stop codon frame shift mutation nucleotides in mRNAresultingin a premature stop codon frame shift mutation nucleotides in mRNA
to a premature stop during the gene which ends up in little if any dystrophin protein productionleadto a premature stop during the gene which ends up in little if any dystrophin protein production
in damage to a gene responsible for a specific protein and account for some of the most severe phenotypes in genetic diseasestypically resultin damage to a gene responsible for a specific protein and account for some of the most severe phenotypes in genetic diseases
to a premature stop codon and truncation of the predicted protein productleadingto a premature stop codon and truncation of the predicted protein product
to the early termination of protein synthesis , missense mutations ( a that results an a substitution of one amino acid for another in a protein ) , or silent mutations that cause no detectable changeleadingto the early termination of protein synthesis , missense mutations ( a that results an a substitution of one amino acid for another in a protein ) , or silent mutations that cause no detectable change
in a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing of the mRNAresultingin a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing of the mRNA
to either production of truncated proteins or complete elimination of the corresponding gene productsleadingto either production of truncated proteins or complete elimination of the corresponding gene products
to nonsense - mediated messenger RNA decay resulting in the absence of corresponding proteinlikely leadingto nonsense - mediated messenger RNA decay resulting in the absence of corresponding protein
in a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing of the mRNA . 11resultingin a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing of the mRNA . 11
in a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing ofresultingin a premature stop codon , frameshift mutations , or mutations that result in abnormal splicing of
in reduced activity of the protein encoded by the genemay resultin reduced activity of the protein encoded by the gene
premature protein terminationshould causepremature protein termination
to premature truncation of protein transcriptionleadingto premature truncation of protein transcription
to truncation or missense mutations affecting protein stability in both allelesleadingto truncation or missense mutations affecting protein stability in both alleles
in a premature stop codon and proteinresultingin a premature stop codon and protein
in the premature truncation of a proteinresultin the premature truncation of a protein
to premature truncation of the proteinleadingto premature truncation of the protein
to premature transcription terminations in cells , which in turn generate non - functional , truncated proteinsleadto premature transcription terminations in cells , which in turn generate non - functional , truncated proteins
to premature truncation of protein transcription with concomitant loss of functionleadingto premature truncation of protein transcription with concomitant loss of function
to loss of full - length protein , the biological interpretation of a missense mutation with only one amino acid exchangeleadto loss of full - length protein , the biological interpretation of a missense mutation with only one amino acid exchange
in a stop codon that leads to a truncated proteinresultin a stop codon that leads to a truncated protein
to low mRNA levels as a result of nonsense - mediated decayleadto low mRNA levels as a result of nonsense - mediated decay
in a premature stop codon , frameshift mutationsresultingin a premature stop codon , frameshift mutations
in the production of a truncated proteincan resultin the production of a truncated protein
in premature termination of the translation of ND6 proteinresultsin premature termination of the translation of ND6 protein
in a truncated protein , promoter mutation , splicing mutation , etcresultingin a truncated protein , promoter mutation , splicing mutation , etc
in severely truncated proteins and splicing abnormalities leading to a null productresultingin severely truncated proteins and splicing abnormalities leading to a null product
a more severe phenotype than missense mutationsusually causea more severe phenotype than missense mutations
in a premature truncation of the proteinresultsin a premature truncation of the protein
to premature termination of translation at amino acidleadingto premature termination of translation at amino acid
in production of an unstable truncated proteinresultsin production of an unstable truncated protein
premature termination of translation in the original reading framecausespremature termination of translation in the original reading frame