EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa.
Neurobiol Aging
; 35(2): 445.e1-3, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-24080171
ABSTRACT
The R1205H mutation in the eukaryotic translation initiation factor 4G1 (EIF4G1) gene and the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the present study, 418 South African PD patients and 528 control subjects of diverse ethnicities were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The mutations were not found in our study, suggesting that they are not a common cause of PD in South African patients. Further studies are needed on the frequency of these 2 mutations in other sub-Saharan African populations.
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Texto completo:
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Parkinsonianos
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Proteínas de Transporte Vesicular
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Fator de Iniciação Eucariótico 4G
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Taxa de Mutação
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Mutação
Limite:
Humans
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article