Objective/Methods: The objective of the present study is to describe clinical and molecular features of three siblings harboring the GRN deletion NM 002087.3:c.295_308delTGCCCACGGGGCTT, p.(Cys99Profs*15) identified with next generation sequencing.
Background: Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia.
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes
Vitale Emilia
;
2020
Abstract
Background: Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia.File in questo prodotto:
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