AI Article Synopsis
- Recent research has found mutations in the PGRN gene associated with frontotemporal lobar degeneration, particularly linked to chromosome 17q21.
- The study identified two new frameshift mutations and three potential harmful missense mutations in the PGRN gene.
- The researchers also assessed the frequency of these mutations in families from a large-scale study in The Netherlands on frontotemporal lobar degeneration.
Article Abstract
Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.
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| http://dx.doi.org/10.1038/sj.ejhg.5201772 | DOI Listing |
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