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Fragile X syndrome (FXS), the most common single gene cause of inherited intellectual disabilities and autism, is characterized by a CGG-repeat expansion (>200 CGG repeats, full mutation) in the portion of the first exon of the fragile X mental retardation 1 gene (FMR1), which encodes the 5' UTR of the FMR1 mRNA.
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Genetic analysis most often shows a mutation in exon 15, in the 5' portion of the APC gene outside the Mutational Cluster Region (i.e., before codon 1,220).
Mutation probability P m indicates the portion of the population that undergoes mutation in each iteration of the algorithm.
Thus, the compensatory mutations in these cleavage sites optimize the portion of the substrate volume that stays within the dynamic substrate envelope.
It turns out that all of the bird species share genetic mutations that inactivate genes involved in the formation of both tooth enamel and the portion of the tooth called dentin.
He perceived that the sickling of cells noted in this disease might be caused by a genetic mutation in the globin portion of the blood cell's hemoglobin.
Indeed, technologies capable of detecting abnormalities in the exome (the portions of the genome that code for proteins) have revealed on average some 100 mutations per tumour cell.
We found that in families with mutations occurring 5′ of BRCA1 exon 11 on average a significantly higher number of ovarian cancers were present than in families with mutations in the central portion of the gene.
Over the course of the past decade, at least 131 mutations in the coding portion of the ADAR1 gene have been identified in individuals with DSH [ 53- 55].
We constructed several well-defined mutations in the nonstructural portion of the poliovirus type I (Mahoney strain) genome by making small insertions in an infectious cDNA clone.
The main mechanisms of resistance to Imatinib include Bcr-Abl dependent mechanisms such as amplification or mutations in the Abl portion of the Bcr-Abl gene.
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