Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Jama Neurology
Blauwendraat, Cornelis C; Reed, Xylena X; Kia, Demis A DA; Gan-Or, Ziv Z; Lesage, Suzanne S; Pihlstrøm, Lasse L; Guerreiro, Rita R; Gibbs, J Raphael JR; Sabir, Marya M; Ahmed, Sarah S; Ding, Jinhui J; Alcalay, Roy N RN; Hassin-Baer, Sharon S; Pittman, Alan M AM; Brooks, Janet J; Edsall, Connor C; Hernandez, Dena G DG; Chung, Sun Ju SJ; Goldwurm, Stefano S; Toft, Mathias M; Schulte, Claudia C; Bras, Jose J; Wood, Nicholas W NW; Brice, Alexis A; Morris, Huw R HR; Scholz, Sonja W SW; Nalls, Mike A MA; Singleton, Andrew B AB; Cookson, Mark R MR; ,
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
Publication Date: 2012-07
Variant appearance in text: LRRK2: 5977C>T; Arg1993X