{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tipton PW"],"funding":["Research Foundation","Mayo Clinic LBD Functional Genomics Program","Sol Goldman Charitable Trust","Mayo Clinic Center for Regenerative Medicine","NINDS NIH HHS","Department of Defense","US","Fox Foundation","Little Family Foundation"],"pagination":["16-18"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7528207"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["73"],"pubmed_abstract":["We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America."],"journal":["Parkinsonism & related disorders"],"pubmed_title":["Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations."],"pmcid":["PMC7528207"],"funding_grant_id":["R01 NS078086","BHV3241-301","U54 NS110435","U54 NS100693","P50 NS072187","M15-562","M15-563","BHV4157-206","W81XWH-17-1-0249"],"pubmed_authors":["Moreno-Lopez CL","Wszolek ZK","Romero-Osorio O","Tipton PW","Soto-Beasley AI","Ross OA","Cerquera-Cleves C","Walton RL","Diaz C","Soler-Rangel S"],"additional_accession":[]},"is_claimable":false,"name":"Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations.","description":"We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Apr","modification":"2026-05-07T16:44:10.918Z","creation":"2022-02-09T10:13:55.919Z"},"accession":"S-EPMC7528207","cross_references":{"pubmed":["32197197"],"doi":["10.1016/j.parkreldis.2020.03.008"]}}