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In fact, several reports have shown that nonsense mutations cause genetic diseases [25], [26], [27], [28].
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In the Online Mendelian Inheritance in Man (OMIM, http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim) database, more than 2200 genes are known to have mutations causing genetic diseases.
The data presented here argue in favor of T188K being a pathogenic mutation causing genetic CJD.
A variety of genetic mutations cause familial ALS, with a proportion (20%%) of these cases due to mutations in superoxide dismutase 1 (SOD1) [ 13].
The whole system relies on the fact that research into mutations that cause genetic diseases are made publicly available.
Abnormal prion proteins resulting from prion protein gene mutations clearly cause genetic prion diseases.
Heterozygous SAMHD1 gene mutations might cause genetic predispositions that interact with other risk factors, resulting in increased vulnerability to stroke.
Analyses have also shown that 15% of point mutations that cause genetic disease affect pre-mRNA splicing [ 10], providing a link between AS events and inherited genetic diseases.
If the mutation rate of a virus lies above this critical threshold, then mutation will cause genetic information to be lost.
Missense mutations and nonsense mutations are examples of point mutations, which can cause genetic diseases such as sickle-cell disease and thalassemia respectively.
SCN1A mutations can also cause genetic epilepsy with febrile seizures plus (GEFS+), severe myoclonus epilepsy of infancy (SMEI) and some other rare epilepsy syndromes [57].
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