Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment-Reference-Cited by-同舟云学术

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

Published:2018-07-04 Issue: Volume: Page:
ISSN:1107-3756
Container-title:International Journal of Molecular Medicine
language:
Short-container-title:Int J Mol Med

Author:

Huang Xinhua¹,Lin Ying¹,Chen Chuan¹,Zhu Yi¹,Gao Hongbin²,Li Tao¹,Liu Bingqian¹,Lyu Cancan¹,Huang Ying¹,Wu Qingxiu¹,Li Haichun¹,Jin Chenjin¹,Liang Xiaoling¹,Lu Lin¹

Affiliation:

1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China

2. Department of Toxicology, School of Public Health and Tropical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China

Publisher

Spandidos Publications

Subject

Genetics,General Medicine

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia;International Journal of Biological Sciences;2020

2. Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I;Acta Ophthalmologica;2019-11-17

3. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita;Genetic Testing and Molecular Biomarkers;2019-05

4. Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract;Molecular Medicine Reports;2018-09-10