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Eur J Hum Genet. 2007 Mar;15(3):369-74. Epub 2007 Jan 17.

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Author information

1
Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands.

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.

PMID:
17228326
DOI:
10.1038/sj.ejhg.5201772
[Indexed for MEDLINE]
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