Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease

The VCAN/versican gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal dominant non-syndromic vitreoretinopathy that induces r...

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Detalles Bibliográficos
Autores principales: Li, Songshan, Li, Mengke, Sun, Limei, Zhao, Xiujuan, Zhang, Ting, Huang, Li, Huang, Sijian, Chen, Chonglin, Wang, Zhirong, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564609/
https://www.ncbi.nlm.nih.gov/pubmed/32854301
http://dx.doi.org/10.3390/genes11090992

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564609/
https://www.ncbi.nlm.nih.gov/pubmed/32854301
http://dx.doi.org/10.3390/genes11090992

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