Article
Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
Movement disorders : official journal of the Movement Disorder Society - 15 Jul 2008
Guerreiro Rita Joao, Santana Isabel, Bras Jose Miguel, Revesz Tamas, Rebelo Olinda, Ribeiro Maria Helena, Santiago Beatriz, Oliveira Catarina Resende, Singleton Andrew, Hardy John
Abstract excerpt
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive...
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