Mutation Sentence Examples
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- Not everyone who has
inherited a genetic mutation
for Gaucher disease from both parents has symptoms.
- Mutation in exons
20 to 24 and their flanking introns were found in any of the 35 patients.
- These genes are often screened for
only in the region most likely to contain mutations.
- Mutation assay
- Missense mutation analysis This project is investigating the application of bioinformatic tools to determine the pathogenicity of unclassified
at residue 91 in VP3 is shown in cyan, and all suppressor mutations are shown in white.
- Mutation in a patterning gene
could give rise to a simple heart defect, not a full scale patterning defect.
- Comment: The clinical relevance of this paper is unclear, as no-one is currently proposing population screening for BRCA1 and
- Mutation carriers
be managed differently from sporadic cases?
- The survival rate in the 24 patients with
did not differ significantly from that in the 16 patients without p53 mutation.
- Milder disease was observed in some cases carrying missense mutations as compared with those carrying
- However a gap remained between linking a
to the outcome of the disease.
- Many members of Li-Fraumeni families have a
of the TP53 gene.
- More recently, I have been involved in the detailed determination of gene function through
of the genes encoding renin.
- That is, women with negative results for
are still at risk of cancer.
- It was not able to induce point and
in haploid Saccharomyces cerevisiae cells.
- This project addresses how
are analyzed before an interpreted report is issued.
- Importantly, in rare families, a
has been shown to cause the abnormal build up of tau protein in the brain.
- High frequency of cryptic
in Caenorhabditis elegans.
- By contrast, a woman with a heteroplasmic
mtDNA mutation, may transmit a variable amount of mutated mtDNA to her children.
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