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Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
PURPOSE: To identify the mutations in the pre-mRNA processing factor 31 homolog (PRPF31) gene in Chinese families with autosomal dominant retinitis pigmentosa (adRP) and to characterize the clinical features of those patients who were found to have mutations in the PRPF31 gene. METHODS: Detailed ocu...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534138/ https://www.ncbi.nlm.nih.gov/pubmed/23288994 |