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As our paralogous protein family classification required that each family member have the same domain profile, the differential expression may be attributable to mutations in regulatory regions rather than gene coding regions, consistent with the DDC model.
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It should be noted that not all hereditary breast and ovarian cancer is attributable to mutations in BRCA1 and BRCA2.
Regarding FTLD, a substantial proportion (precise number?) of cases are attributable to mutations in either the gene for progranulin (GRN), which cause disease through a haploinsufficiency mechanism (reviewed in [13]) or the MAPT gene [14].
The elevation in amino acid levels was attributable to mutations in pfcrt.
A low proportion of the early-onset breast cancer is attributable to mutations in these genes.
Intriguingly, the authors provide evidence that cooling can also rescue mobility and synaptic defects that are attributable to mutations in genes that are not linked with spastin function.
Almost all forms of MODY are attributable to mutations that result in deficient insulin release and are not associated with insulin resistance.
One half of the genetic variance is attributable to mutations in APP, PSEN1, PSEN2, and the APOE e4-allele, and they have been shown to cause the overproduction or reduced clearance of Aβ (Rogaeva et al. 2006).
Approximately 5% of all cases of breast cancer are associated with inherited predisposition syndromes and about half of these are attributable to mutations in the BRCA1 and BRCA2 genes (Hopper, 2001).
Disease-associated variants in PALB2 are rare in the UK population, with only approximately 1% of familial breast cancer being attributable to mutations in this gene, whereas 1% of all breast cancer in Finland is due to a single mutation (1592delT) in PALB2 [ 12].
In 5 10% of cases there is a family history of ALS and about a quarter of these are attributable to mutation in the superoxide dismutase (SOD1) or TAR-DNA binding protein 43 (TARDBP) genes.
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CEO of Professional Science Editing for Scientists @ prosciediting.com