Article
A thorough assessment of benign genetic variability in GRN and MAPT.
Human mutation - 1 Feb 2010
Guerreiro Rita J, Washecka Nicole, Hardy John, Singleton Andrew
Abstract excerpt
Mutations in APP, PSEN1, MAPTand GRNare the most common genetic causes of dementia. The previous miss-assignment of pathogenicity to benign variants in these genes stresses the importance of discerning between disease causing mutations and benign variants with no pathogenic effect on the function...
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