Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

Philip W. Tipton; Alexandra I. Soto-Beasley; Ronald L. Walton; Silvia Soler-Rangel; Óscar Romero-Osorio; Cindy Díaz; Claudia Lucía Moreno-López; Owen A. Ross; Zbigniew K. Wszolek; Catalina Cerquera-Cleves

doi:10.1016/j.parkreldis.2020.03.008

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

Philip W. Tipton
, Alexandra I. Soto-Beasley
, Ronald L. Walton
, Silvia Soler-Rangel
, Óscar Romero-Osorio
, Cindy Díaz
, Claudia Lucía Moreno-López
, Owen A. Ross
, Zbigniew K. Wszolek
, Catalina Cerquera-Cleves

Producción: Contribución a una revista › Carta › revisión exhaustiva

6 Citas (Scopus)

Resumen

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.

Idioma original	Inglés
Páginas (desde-hasta)	16-18
Número de páginas	3
Publicación	Parkinsonism and Related Disorders
Volumen	73
DOI	https://doi.org/10.1016/j.parkreldis.2020.03.008
Estado	Publicada - abr. 2020

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10.1016/j.parkreldis.2020.03.008

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@article{1364a0c80e6849dda8eb2ef649cd08f2,

title = "Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations",

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.",

keywords = "GBA, Gaucher's disease, Genetics, Parkinson's disease",

author = "Tipton, \{Philip W.\} and Soto-Beasley, \{Alexandra I.\} and Walton, \{Ronald L.\} and Silvia Soler-Rangel and {\'O}scar Romero-Osorio and Cindy D{\'i}az and Moreno-L{\'o}pez, \{Claudia Luc{\'i}a\} and Ross, \{Owen A.\} and Wszolek, \{Zbigniew K.\} and Catalina Cerquera-Cleves",

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = apr,

doi = "10.1016/j.parkreldis.2020.03.008",

language = "English",

volume = "73",

pages = "16--18",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier Ltd.",

}

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

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 - GBA

KW - Gaucher's disease

KW - Genetics

KW - Parkinson's disease

UR - https://www.scopus.com/pages/publications/85081688880

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 -

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

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