Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Juvenile onset open-angle glaucoma (JOAG) affects patients before 40 years of age, causing high intraocular pressure and severe optic nerve damage. To expand the mutation spectrum of the causative genes in JOAG, with a view to identify novel disease-causing mutations, we investigated MYOC, OPTN, NTF...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: Huang, Chukai, Xie, Lijing, Wu, Zhenggen, Cao, Yingjie, Zheng, Yuqian, Pang, Chi-Pui, Zhang, Mingzhi
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852028/
https://ncbi.nlm.nih.gov/pubmed/29540704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-22337-2
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky