Guerreiro, RJ and Washecka, N and Hardy, J and Singleton, A (2010) A Thorough Assessment of Benign Genetic Variability in GRN and MAPT. HUM MUTAT , 31 (2) E1126 - E1140. 10.1002/humu.21152.
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Abstract
Mutations in APP, PSEN1, MAPT and GRN are 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 of the respective protein. In this study we sequenced GRN and MAPT in 282 samples from the Centre d'Etude du Polymorphisme Humain - Human Genome Diversity Cell Line Panel, in order to identify benign variants that could otherwise be mistaken for pathogenic mutations. We found sixteen different non-synonymous changes, eleven of which are novel variants. (C) 2009 Wiley-Liss, Inc.
| Type: | Article |
|---|---|
| Title: | A Thorough Assessment of Benign Genetic Variability in GRN and MAPT |
| DOI: | 10.1002/humu.21152 |
| Keywords: | GRN, MAPT, benign variants, pathogenicity, FRONTOTEMPORAL LOBAR DEGENERATION, FAMILIAL ALZHEIMERS-DISEASE, PROGRANULIN MUTATION, MISSENSE MUTATIONS, DEMENTIA, TAU, PREDICTION |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience |
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