Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.

Pires, Carolina

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation. [electronic resource] - Journal of Alzheimer's disease : JAD 2013 - 335-42 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1875-8908

10.3233/JAD-130146 doi


Aged
DNA Mutational Analysis
Family Health
Female
Frontotemporal Dementia--genetics
Glutamine--genetics
Humans
Intercellular Signaling Peptides and Proteins--genetics
Magnetic Resonance Imaging
Mental Status Schedule
Middle Aged
Mutation--genetics
Phenotype
Progranulins
Proline--genetics