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De novo mutations of TUBA3D are associated with keratoconus

Keratoconus (KC) is a common degenerative corneal disease, and heredity plays a key role in its development. Although few genes are known to cause KC, a large proportion of disease-causing genes remain to be revealed. Here, we report the identification of TUBA3D as a novel gene linked to KC. Using w...

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Detalles Bibliográficos
Autores principales: Hao, Xiao-dan, Chen, Peng, Zhang, Yang-yang, Li, Su-xia, Shi, Wei-yun, Gao, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648796/
https://www.ncbi.nlm.nih.gov/pubmed/29051577
http://dx.doi.org/10.1038/s41598-017-13162-0