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by insertions , deletions , and nonsense mutations(passive) caused bysplice site mutations and truncation mutations
substitution of G residue of GT consensus sequence in donor splice site(passive) was caused bySplice site mutation
diseasecausingmutations affect splicing
point mutations or small truncations leading to the expression of a gene product that has lost an interaction with another protein(passive) are caused byEdgetic mutations
HBV subgenotype C2 infectionmay contributeA1762T / G1764A mutations
the researchers ... ableto discoverMLL2 mutations
imp1 andcausecut15 mutations
genetic diseasesresultfrom splicing mutations
the aberrant transcriptsresultedfrom the splicing mutations
also(passive) have ... been discoveredBRAF mutations
Although compositions haw alter undramatically withinfamilies , specic phenotypess be givento be discoveredwithcertain mutations
a dominant familial cancer syndromecausedgermline mutations
other glaucomacausingMYOC mutations
geneswhere ... causegermline mutations
in about 8 % of cancers(passive) have been discoveredBRAF mutations
Diseasecausinggermline mutations
frame shiftcausingindel mutations
cancercausinggermline mutations
in autism , schizophrenia , ADHD , etc .(passive) are discoveredIRSp53 mutations
a variety of endogenous and exogenous factors(passive) can be caused byGermline mutations
another endogenous factorcan causegermline mutations
that scientists and doctors do not knowcausesCDKL5 mutations
Oxidative damage ... another endogenous factorcan causegermline mutations
by the latter(passive) caused byoncogene mutations
DiseasecausingOPA1 mutations
by substitution of the glycine(passive) caused byHelical mutations
genetic drift or insertions of genetic mobile elements(passive) caused bydeleterious mutations
a variety of endogenous ( internal ) and exogenous ( external ) factors(passive) can be caused byGermline mutations
many of whichcan causedeleterious mutations
to background radiation for longercausesdeleterious mutations
Although makeups crataegus laevigata conform dramatically withinfamilies , specic phenotypess leanto be discoveredwithcertain mutations
by 8-oxoG(passive) caused by8-oxoG. Mutations
the presence of diseasecausingFLCN mutations
Missenseleadssplice mutation
Diseasecausinggermline mutation(s
The smokecausedmutations ( mutagenic
159 diseasecausingFLCN mutations
steroid-27 hydroxylase activity(passive) caused byCYP27A1 mutations
by exposure to polluted alchemy labs , magical radiation , or either cursed or corrupted magic , which are properly known as fleshwarp mutations(passive) caused bytransformative mutations
exposure to polluted alchemy labs , magical radiation , or either cursed or corrupted magic , which are properly known as fleshwarp mutations(passive) caused bytransformative mutations
retinitis pigmentosacausingretinitis pigmentosa
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
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 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
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 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
to premature truncation of the proteinleadingto premature truncation of the protein
exon skipping , or ( 4 ) nonsense mutationscausingexon skipping , or ( 4 ) nonsense mutations
in absence of a functional proteinresultingin absence of a functional protein
exon 14 skippingcausingexon 14 skipping
exon skippingcan causeexon skipping
exon skippingcausedexon skipping
in exon skippingresultin exon skipping
in the truncation of the proteinresultin the truncation of the protein
to protein truncation and loss of functionleadto protein truncation and loss of function
to the use of cryptic splice sitesmay leadto the use of cryptic splice sites
Aberrant splicing(passive) can be caused byAberrant splicing
aberrant splicingcan causeaberrant splicing
in interruption of normal splicing sitesmight resultin interruption of normal splicing sites
abnormal inclusion or exclusion of DNA in the coding sequencecauseabnormal inclusion or exclusion of DNA in the coding sequence
14 skippingcausing14 skipping
in - frameleadingin - frame
in - frameresultingin - frame
in in - frameresultingin in - frame
in aberrant transcript processingresultingin aberrant transcript processing
other diseases(passive) caused byother diseases
deletion of exoncausingdeletion of exon
in nucleotide changesresultingin nucleotide changes
a frameshift following exon 7causinga frameshift following exon 7
to MET exonleadingto MET exon