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Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

PURPOSE: To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. METHODS: Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger...

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Detalles Bibliográficos
Autores principales:	Xiang, Qin, Cao, Yanna, Xu, Hongbo, Yang, Zhijian, Tang, Liang, Xiang, Ju, Li, Jianming, Deng, Hao, Yuan, Lamei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387190/ https://www.ncbi.nlm.nih.gov/pubmed/34457359 http://dx.doi.org/10.1155/2021/6684045

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