Diagnosis of neurodegenerative disease

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 71, 435 912, 536 231, 536 235, 536 243, 536 2433, 530350, 5303871, C12Q 168, C07H 2104, G01N 3353

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059586842

ABSTRACT:
The invention encompasses methods and reagents for the diagnosis of a disease caused by or associated with a gene having a somatic mutation giving rise to a frameshift mutation. The methods include the steps of providing a body fluid or tissue sample from a patient; and analyzing the sample for the presence of a gene having a frameshift mutation or a protein encoded thereby, wherein the presence of the mutated gene or encoded protein is indicative of the disease.

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