Analysis of a patient with early-onset Parkinson’s disease and PARK7 gene variation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 957-960, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-796456
ABSTRACT
Objective@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*Methods@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*Results@#A homozygous missense variation (c.56C>G, p. Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c. 56C>G variation to be pathogenic.@*Conclusion@#Homozygous c. 56C>G variation of the PARK7 gene was the disease-causing variation in this family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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