The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency

Saracino, D; Sellami, L; Clot, F; Camuzat, A; Lamari, F; Rucheton, B; Benyounes, I; Roue-Jagot, C; Lagarde, J; Sarazin, M; Jornea, L; Forlani, S; LeGuern, E; Dubois, B; Brice, A; Le Ber, I

Le Ber, I (corresponding author), Hop La Pitie Salpetriere, ICM, 47-83 Blvd Hop, F-75651 Paris 13, France.

NEUROBIOLOGY OF AGING, 2020; 85 ():

Abstract

GRN null mutations are among the main genetic causes of frontotemporal dementia through progranulin haploinsufficiency. Most missense mutations are co......

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