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2017•PubMedOpen access

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.

Xiaoning Yu, Binbin Chen, Xin Zhang, Xingchao Shentu

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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.

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What this paper is about

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.

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Available 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.

Key concepts: Sanger sequencing, Genetics, Single-nucleotide polymorphism, Exome sequencing, Biology, Keratoconus, Gene, Medicine

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Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population. — Research Paper | ScholarLens