site - directed mutagenesis(passive) were created bySplice mutations
substitution of G residue of GT consensus sequence in donor splice site(passive) was caused bySplice site mutation
Defective mRNA splicing caused by single nucleotide polymorphisms ( SNPs ) and/orresultssplice site mutations
as neo has been foundto causesplicing mutations
Ser116Ser , predictedto causesplice site mutation
the prevalence of deep intronic MYBPC3 pathogenic variationscould leadto splice mutations
to in - frame exon skippingleadingto in - frame exon skipping
Transcription - coupled RNA surveillance in human genetic diseases(passive) caused byTranscription - coupled RNA surveillance in human genetic diseases
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
exon skipping ( 35causingexon skipping ( 35
in ( multi)exon skippingresultingin ( multi)exon skipping
animal models for human genetic diseases(passive) caused byanimal models for human genetic diseases
several genetic diseases(passive) caused byseveral genetic diseases
approximately 15 % of human genetic diseases [ 3causeapproximately 15 % of human genetic diseases [ 3
exon skipping without frameshiftcausingexon skipping without frameshift
Retinal degenerations and other genetic diseases(passive) are often caused byRetinal degenerations and other genetic diseases
exon skipping leading to aberrant , out of frame transcriptscausedexon skipping leading to aberrant , out of frame transcripts
to exon - skipping or activation of cryptic splice sites ... 24]–[26can leadto exon - skipping or activation of cryptic splice sites ... 24]–[26
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
exon skipping occur at around the frequencycauseexon skipping occur at around the frequency
within the genome to induce exon skippingare createdwithin the genome to induce exon skipping
several human diseases(passive) caused byseveral human diseases
in aberrant splicingresultingin aberrant splicing
optiond part ... in exon - skipping in more 3 positions in the generesultoptiond part ... in exon - skipping in more 3 positions in the gene
retinal diseases(passive) are caused byretinal diseases
various genetic diseases , such as metabolic , neurological and muscular disorderscausingvarious genetic diseases , such as metabolic , neurological and muscular disorders
Full Text Link to Item Eichers , ER , Green , JS , Stockton , DW , Jackman , CS , Whelan , J , McNamara , JA , Johnson , GJ , Lupski , JR , and Katsanis , N. " Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused byFull Text Link to Item Eichers , ER , Green , JS , Stockton , DW , Jackman , CS , Whelan , J , McNamara , JA , Johnson , GJ , Lupski , JR , and Katsanis , N. " Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy
to in - frame exonic deletions as well as in - frame deletionsleadingto in - frame exonic deletions as well as in - frame deletions
LCA)but potentially many other subtypes of retinal dystrophy(passive) caused byLCA)but potentially many other subtypes of retinal dystrophy
abnormal inclusion or exclusion of DNA in the coding sequence , resulting in an abnormal proteincauseabnormal inclusion or exclusion of DNA in the coding sequence , resulting in an abnormal protein
in putative null allelesresultingin putative null alleles
2002 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by2002 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy
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
exon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4can causeexon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4
38 8 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by38 8 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy
potentially many other subtypes of retinal dystrophy ( show MERTK Antibodies(passive) caused bypotentially many other subtypes of retinal dystrophy ( show MERTK Antibodies
potentially many other subtypes of retinal dystrophy ( zeige MERTK Antikörper(passive) caused bypotentially many other subtypes of retinal dystrophy ( zeige MERTK Antikörper
to a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusionleadto a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusion
Mouse models of FVII deficiency(passive) caused byMouse models of FVII deficiency
potentially many other subtypes of retinal dystrophy ( zeige MERTK ELISA Kits(passive) caused bypotentially many other subtypes of retinal dystrophy ( zeige MERTK ELISA Kits
3 22 45 60 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by3 22 45 60 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy
3 23 41 54 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy(passive) is caused by3 23 41 54 Newfoundland rod - cone dystrophy , an early - onset retinal dystrophy
in truncation of translation ofresultingin truncation of translation of
numerous diseases and adverse drug reactionscausenumerous diseases and adverse drug reactions
mutation by which of the following mechanismscan causemutation by which of the following mechanisms
in in - frame deletion of exon 8 or 9 ( 22resultingin in - frame deletion of exon 8 or 9 ( 22