期刊
HUMAN MUTATION
卷 31, 期 2, 页码 E1126-E1140出版社
WILEY-LISS
DOI: 10.1002/humu.21152
关键词
GRN; MAPT; benign variants; pathogenicity
资金
- National Institute on Aging, National Institutes of Health, Department of Health and Human Services [Z01 AG000951-06]
- Portuguese Fundacao para a Ciencia e Tecnologia [SFRH/BD/27442/2006]
- Medical Research Council [G0601943, G0701075] Funding Source: researchfish
- MRC [G0601943, G0701075] Funding Source: UKRI
- Fundação para a Ciência e a Tecnologia [SFRH/BD/27442/2006] Funding Source: FCT
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.
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