Your browser doesn't support javascript.
Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation / 中华医学遗传学杂志
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776768
Biblioteca responsável: WPRO
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.
Assuntos

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Doença de Parkinson / Linhagem / Humanos / Consanguinidade / Mutação de Sentido Incorreto / Proteína Desglicase DJ-1 / Genética / Homozigoto Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo