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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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| Udgivet i: | Chin Med J (Engl) |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Medknow Publications & Media Pvt Ltd
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5040013/ https://ncbi.nlm.nih.gov/pubmed/27647186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.190671 |
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