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.
Artículo
en Chino
| WPRIM
| ID: wpr-776768
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Parkinson
/
Linaje
/
Consanguinidad
/
Mutación Missense
/
Proteína Desglicasa DJ-1
/
Genética
/
Homocigoto
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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