Novel mutations identified in the Chinese Han population with keratoconus by next-generation sequencing

Abstract excerpt

<title>Abstract</title> <p>BACKGROUND Keratoconus (KC) is characterized by bilateral progressive corneal thinning and ectasia. The prevalence of KC is approximately 8.8 to 54.4 per 100,000 individuals across the globe. Genetic factors have been shown to contribute to the pathogenesis of KC. This study will identify new mutations in the susceptibility gene of keratoconus (KC) in the Chinese Han population. METHOD...

Topics

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• Asian People
• Exome
• Exome Sequencing
• Genetic Markers
• High-Throughput Nucleotide Sequencing
• Keratoconus
• Polymorphism, Single Nucleotide
• Young Adult

Identifiers and source

Literature Corpus work

4b2a7654-fedf-59ae-ac0c-f22cb4e05a5b

DOI

10.21203/rs.3.rs-121907/v1