Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy

PURPOSE: We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA). METHODS: In total, 15 families with OA were recruited in the present study. Medical histories were carefully reviewed and comprehensive ophthalmic examinations were received by all recruited patie...

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Detalles Bibliográficos
Autores principales: Wang, Yuwei, Xu, Min, Liu, Xiaoxing, Huang, Yongheng, Zhou, Yao, Liu, Qinghuai, Chen, Xue, Zhao, Chen, Wang, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982427/
https://www.ncbi.nlm.nih.gov/pubmed/32025183

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