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A novel deep intronic <i>COL2A1</i> mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Qingjiong Zhang

2020Ophthalmic and Physiological Optics18 citationsDOI

Topics & Concepts

Sanger sequencingExome sequencingGeneticsCandidate geneBiologyMicrosatelliteGenetic linkageExomeExonRNA splicingGeneIntronDNA sequencingMutationAlleleRNAConnective tissue disorders researchCorneal surgery and disordersOcular Disorders and Treatments
A novel deep intronic <i>COL2A1</i> mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome | Litcius