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In addition, it might not be the loss of function owing to haploinsufficiency but rather a toxic gain of function owing to missense mutations that causes the disease.
We suggest an integrated analysis of mutation and gene expression to discover a combination of rare mutations that causes pathway level gene expression changes.
One of the putative mutations that causes ASE is probably in linkage disequilibrium with the TGFBR1*6A allele but is not itself causative of ASE.
Moreover, the authors claim that the TGFBR1*6A allele is probably in linkage disequilibrium with one of the putative mutations that causes ASE, but TGFBR1*6A per se does not cause ASE.
In the unique case of familial frontotemporal dementia due to progranulin (PGRN) mutations that causes a subset of FTD with TDP-43 accumulation (Mackenzie type 1 or type A) pathology, there is emerging evidence that CSF and plasma levels of progranulin may predict the presence of a mutation.
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Cytosine methylation is a major contributor to the generation of disease-causing germline mutations and somatic mutations that cause cancer.
The whole system relies on the fact that research into mutations that cause genetic diseases are made publicly available.
Similarly, Caucasians are far more likely to carry the gene mutations that cause multiple sclerosis and cystic fibrosis.
Inherited genetic mutations that cause infertility at younger ages are weeded out, because young women carrying them cannot have babies.
That was unexpected, said Lalueza-Fox, because the mutation for blue eyes was thought to have arisen more recently than the mutations that cause lighter skin colour.
Mutations are genetic mistakes, and the ones found in this research were not inborn, but developed later in life, like most mutations that cause cancer.
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