Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early-onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested a...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Int J Mol Med
Hlavní autoři: Huang, Xinhua, Lin, Ying, Chen, Chuan, Zhu, Yi, Gao, Hongbin, Li, Tao, Liu, Bingqian, Lyu, Cancan, Huang, Ying, Wu, Qingxiu, Li, Haichun, Jin, Chenjin, Liang, Xiaoling, Lu, Lin
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2018
Témata:
Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6108863/
https://ncbi.nlm.nih.gov/pubmed/30015854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2018.3752
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky