TY - JOUR
T1 - Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations
AU - Tipton, Philip W.
AU - Soto-Beasley, Alexandra I.
AU - Walton, Ronald L.
AU - Soler-Rangel, Silvia
AU - Romero-Osorio, Óscar
AU - Díaz, Cindy
AU - Moreno-López, Claudia Lucía
AU - Ross, Owen A.
AU - Wszolek, Zbigniew K.
AU - Cerquera-Cleves, Catalina
N1 - Publisher Copyright:
© 2020
PY - 2020/4
Y1 - 2020/4
N2 - 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.
AB - 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.
KW - Gaucher's disease
KW - GBA
KW - Genetics
KW - Parkinson's disease
UR - http://www.scopus.com/inward/record.url?scp=85081688880&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2020.03.008
DO - 10.1016/j.parkreldis.2020.03.008
M3 - Letter
C2 - 32197197
AN - SCOPUS:85081688880
SN - 1353-8020
VL - 73
SP - 16
EP - 18
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -