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A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy

Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. Variants in CHST6 gene have been recognized as the most critical genetic components in MCD. Although many CHST6...

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Detalles Bibliográficos
Autores principales: Zhang, Jing, Wu, Dan, Li, Yue, Fan, Yidan, Dai, Yiqin, Xu, Jianjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382428/
https://www.ncbi.nlm.nih.gov/pubmed/30716718
http://dx.doi.org/10.18632/aging.101807