A GCG expansion (GCG)(11) in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family

PURPOSE: To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD). METHODS: Clinical and ophthalmologic examinations were conducted on available living...

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Detalles Bibliográficos
Autores principales: Ye, Juan, Zhang, Huina, Zhou, Yandan, Wu, Han, Wang, Changjun, Shi, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108037/
https://www.ncbi.nlm.nih.gov/pubmed/21647273

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