Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration☆

Wauters, E; Gossye, H; Frydas, A; Sieben, A; Van Broeckhoven, C

Van Broeckhoven, C (通讯作者),VIB, Ctr Mol Neurol, Univ Pl 1, B-2610 Antwerp, Belgium.

NEUROBIOLOGY OF AGING, 2023; 130 (): 61

Abstract

Heterozygous loss-of-function (LOF) mutations in the progranulin gene (GRN) cause frontotemporal lobar degeneration (FTLD) by a mechanism of haploinsu......

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