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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genes (Basel)
Hlavní autoři: Li, Songshan, Li, Mengke, Sun, Limei, Zhao, Xiujuan, Zhang, Ting, Huang, Li, Huang, Sijian, Chen, Chonglin, Wang, Zhirong, Ding, Xiaoyan
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7564609/
https://ncbi.nlm.nih.gov/pubmed/32854301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11090992
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky