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

Internet

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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