Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

BACKGROUND: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. METHODS: Eighty-nine index patients were included in the study. DYSF gene analysis was performed by Sanger sequencing in 4...

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Detalles Bibliográficos
Autores principales: Jin, Su-Qin, Yu, Meng, Zhang, Wei, Lyu, He, Yuan, Yun, Wang, Zhao-Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040013/
https://www.ncbi.nlm.nih.gov/pubmed/27647186
http://dx.doi.org/10.4103/0366-6999.190671

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040013/
https://www.ncbi.nlm.nih.gov/pubmed/27647186
http://dx.doi.org/10.4103/0366-6999.190671

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