Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.
Year: 2017
Type: article
Study design: Observational Study
Abstract: PURPOSE: ) gene in patients with sporadic keratoconus (KC) from a Han Chinese population. METHODS: . The Sorting Intolerant Form Tolerant (SIFT) program was used to predict the effect of amino acid substitution on the ZNF469 protein. RESULTS: ) mutation (c.1940C>T). None of the mutations were detected in the patients with HM or the healthy controls. All of the seven mutations in the patients with KC were heterozygote. CONCLUSIONS: has a pathogenic role in Chinese patients with KC and have widened the mutation spectrum of KC in the Han Chinese population.
Source: PubMed Central
Authors: Xiaoning Yu, Binbin Chen, Xin Zhang, Xingchao Shentu
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2618797198