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Значения термина aberrant splicing на английском
Значения для термина "aberrant splicing" отсутствуют.
Использование термина aberrant splicing на английском
1
In two cases, mRNA analysis was performed to confirm aberrantsplicing.
2
Molecular mechanisms by which such mutations cause tau aberrantsplicing were not understood.
3
It was inferred that aberrantsplicing of the pre-mRNA leads to loss-of-function of BrFLC1.
4
The mutations are predicted to result in a truncated PTCH protein and aberrantsplicing, respectively.
5
In tumours, aberrantsplicing generates variants that contribute to multiple aspects of tumour establishment, progression and maintenance.
6
This approach successfully prevented the aberrantsplicing - reverting the majority of the splice to the wildtype transcript.
7
The observed mutations, aberrantsplicing and downregulation of UMPS represent novel mechanisms for acquired 5-FU resistance in colorectal cancer.
8
To identify other missense mutations in BRCA1 that may result in aberrantsplicing, we screened various mutations using the Genscan program.
9
Mucopolysaccharidosis II is a lysosomal storage disorder caused by mutations in the IDS gene, including exonic alterations associated with aberrantsplicing.
10
Mutations in the human tau gene leading to aberrantsplicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder.
11
Interestingly, 4 of the indel mutations led to aberrantsplicing, which may produce a different protein than predicted from the genomic sequence.
12
We found that insertion of a non-autonomous Class LTR retrotransposable element in the resistant genotype leads to aberrantsplicing of CsaMLO8 mRNA.
13
Mutation analysis revealed the expected total of 66 mutated alleles, 34 of which result in aberrantsplicing patterns.
14
In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrantsplicing.
15
PMID: 24519095 Sequencing of the patient's cDNA revealed an insertion of the last nine nucleotides of intron 3 as a result of aberrantsplicing.
16
Intron 5 of the spa Glyrb gene contains an L1 transposable element that apparently is causal for the aberrantsplicing of beta subunit transcripts.