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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
PURPOSE: Autosomal dominant progressive external ophthalmoplegia (adPEO) is a genetically heterogeneous, adult-onset disease. Thus far, disease loci have been identified on four different nuclear genes. The purpose of this study is to identify the gene responsible for causing adPEO in a Chinese fami...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579934/ https://www.ncbi.nlm.nih.gov/pubmed/18989381 |