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He presented CFTR heterozygosis with a typical CFTR delta F508 mutation in one allele and an unknown mutation on the other allele.
The presence of MSI in a tumor suggests the possibility of a germline mutation in one of the MMR genes and further mutational analysis is then recommended.
ARVC is inherited, caused by a mutation in one or more genes.
Mammoth TRPV3 contains a mutation in one of these lipid-touching regions.
Huntington's disease, which is caused by a mutation in one gene, is present around the world.
Driver gene mutations were fully clonal except for a TP53 mutation in one patient (Fig. 3a).
For example, a mutation in one specific gene makes a person more susceptible to the bacteria causing tuberculosis.
Yes, there are cases in which a single mutation in one of the 3bn bases in DNA causes disease.
Everyone carries these genes, but a mutation in one of them can result in higher risks of breast, ovarian, prostate, colon and some other cancers.
They found a mutation in one of these genes (called SCN5a), which controls the flow of sodium ions into heart cells.
Lynch syndrome (LS) is caused by a germline mutation in one of the mismatch repair (MMR) genes.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com