PMID: 27312774

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology of disease

Geiger, Joshua T JT, Ding, Jinhui J, Crain, Barbara B, Pletnikova, Olga O, Letson, Christopher C, Dawson, Ted M TM, Rosenthal, Liana S LS, Pantelyat, Alexander A, Gibbs, J Raphael JR, Albert, Marilyn S MS, Hernandez, Dena G DG, Hillis, Argye E AE, Stone, David J DJ, Singleton, Andrew B AB, , , Hardy, John A JA, Troncoso, Juan C JC, Scholz, Sonja W SW

2016-10

9 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-155207244-C-T	GBA	c.887G>A	p.R296Q	Missense	7/11	-
1-227071406-AG-CA	PSEN2	c.142_143delAGinsCA	p.R48Q	Missense	5/13	-
21-27284167-C-T	APP	c.1795G>A	p.E599K	Missense	14/18	-
1-155209724-C-T	GBA	c.260G>A	p.R87Q	Missense	3/11	-
4-77091024-T-C	SCARB2	c.1109A>G	p.N370S	Missense	8/12	-
1-155205518-C-G	GBA	c.1342G>C	p.D448H	Missense	9/11	-
14-73673178-A-G	PSEN1	c.953A>G	p.E318G	Missense	9/12	-
14-73659420-G-C	PSEN1	c.617G>C	p.G206A	Missense	7/12	-
19-45411110-T-C	APOE	c.137T>C	p.L46P	Missense	3/4	-