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by nucleotide insertion or deletion(passive) caused byframeshift mutations ... , as well as missense , nonsense , and splice site mutations
> Ccausesa mutation in the splice site proceeding exon 2
> Ccausesa mutation in the splice site proceeding exon 2
XY pseudohermaphroditismresultsfrom point mutations in WT1.5,6 Mutations in the intron 9 splice site
FDresultsfrom a splice site mutation in IKBKAP / ELP1
four base pairsresultingin a frameshift and a splice site mutation
the changes in protein stabilityresultfrom single - site mutations
by the irradiation used for integration(passive) caused bysecond site mutations
by insertions , deletions , and nonsense mutations(passive) caused bysplice site mutations and truncation mutations
by insertions , deletions , and nonsense mutations(passive) caused bysplice site and truncation mutations
Exon skippingcan also resultfrom mutations that alter the genetically encoded splice site
SNVs and indelsresultedin coding and splice - site mutations
All SNVs and indelsresultedin coding and splice - site mutations
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo - obstructionresultedfrom a novel splice site mutation
The pseudo splice site ... in whichcan be resultedfrom a mutation of the canonical splice site
a mutationresultsin a splice site mutation
substitution of G residue of GT consensus sequence in donor splice site(passive) was caused bySplice site mutation
the identified alleleresultsfrom a splice site mutation Splice site mutation
> Gcausesa mutation in the splice site
> Ccausesa mutation in the splice site
exon skippingresultingfrom a splice site mutation
the exon skippingresultsfrom mutation at the splice site
these variationsinfluencesplice site modification
genetic diseasesresultfrom splicing mutations
viral resistance mechanismsresultingfrom binding site mutations
Although compositions haw alter undramatically withinfamilies , specic phenotypess be givento be discoveredwithcertain mutations
geneswhere ... causegermline mutations
frame shiftcausingindel mutations
a variety of endogenous and exogenous factors(passive) can be caused byGermline mutations
another endogenous factorcan causegermline mutations
Oxidative damage ... another endogenous factorcan causegermline mutations
DiseasecausingOPA1 mutations
a variety of endogenous ( internal ) and exogenous ( external ) factors(passive) can be caused byGermline mutations
many of whichcan causedeleterious mutations
Although makeups crataegus laevigata conform dramatically withinfamilies , specic phenotypess leanto be discoveredwithcertain mutations
by 8-oxoG(passive) caused by8-oxoG. Mutations
Missenseleadssplice mutation
Diseasecausinggermline mutation(s
exposure to direct sunlight(passive) caused by33,000 mutations
by steroid-27 hydroxylase activity(passive) caused byCYP27A1 mutations
skipping of exon 5causedskipping of exon 5
an in - frame deletion of an exon , an expressed nucleotide sequence ... leading to the removal of more than 40 amino acids in the TKD.[4causedan in - frame deletion of an exon , an expressed nucleotide sequence ... leading to the removal of more than 40 amino acids in the TKD.[4
an in - frame deletion of an exon , an expressed nucleotide sequence , leading to the removal of more than 40 amino acids in the TKDcausedan in - frame deletion of an exon , an expressed nucleotide sequence , leading to the removal of more than 40 amino acids in the TKD
to aberrant splicingleadsto aberrant splicing
to the inclusion of an intron in the mature mRNAleadto the inclusion of an intron in the mature mRNA
exon skippingcausingexon skipping
retinitis pigmentosacausingretinitis pigmentosa
in exon 14resultin exon 14
in frameshifts or in - frame deletions or insertions , and partial or total allele deletionresultin frameshifts or in - frame deletions or insertions , and partial or total allele deletion
in premature truncation of cDNAto resultin premature truncation of cDNA
various diseases including RPcausevarious diseases including RP
to aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20].usually leadto aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20].
to aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20usually leadto aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20
to exon skippingleadingto exon skipping
to aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retentionusually leadto aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention
skipping of exon 3causedskipping of exon 3
to abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retentionusually leadto abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention
to exon skippingleadingto exon skipping
to the deletion of exon 3 from mRNA encoded with the geneledto the deletion of exon 3 from mRNA encoded with the gene
to abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25].usually leadto abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25].
to abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25usually leadto abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25
in interruption of normal splicing sites , activation of cryptic splice sites , exon skipping , creation of a pseudo - exon within an intron , or intron retentionmight resultin interruption of normal splicing sites , activation of cryptic splice sites , exon skipping , creation of a pseudo - exon within an intron , or intron retention
to METleadingto MET
in exon - skipping or activation of cryptic splice sitesresultin exon - skipping or activation of cryptic splice sites
exon skipping leading to aberrant , out of frame transcriptscausedexon skipping leading to aberrant , out of frame transcripts
to exon skipping as well as intron reading mRNAcan leadto exon skipping as well as intron reading mRNA
the loss of exon 3causingthe loss of exon 3
loss - of - function and Nonne - Milroy - like primary lymphedemacauseloss - of - function and Nonne - Milroy - like primary lymphedema
in mis - splicing in the transcripts , including intron retention or exon deletion [ 14could always resultin mis - splicing in the transcripts , including intron retention or exon deletion [ 14
in incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final productresultin incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final product
skipping of exon 3 ... and thereby omission of 28 amino acids from DNAL4 proteincausedskipping of exon 3 ... and thereby omission of 28 amino acids from DNAL4 protein
to premature truncation of the proteinleadingto premature truncation of the protein
both aberrant splicing and exon skippingcan causeboth aberrant splicing and exon skipping
exon skipping , or ( 4 ) nonsense mutationscausingexon skipping , or ( 4 ) nonsense mutations
to exon skipping as well as intron readingcan leadto exon skipping as well as intron reading
in absence of a functional proteinresultingin absence of a functional protein
to improper splicing and the production of aberrant proteinscan leadto improper splicing and the production of aberrant proteins
exon 14 skippingcausingexon 14 skipping
in - frame skipping of exon 7causingin - frame skipping of exon 7
exon skippingcan causeexon skipping