Novel MYOC gene mutation in a Chinese family with primary open-angle glaucoma.
CONCLUSION: A novel MYOC mutation (c.1309T>C, p.Y437H) in a Chinese family with POAG was identified which was associated with a phenotype characterised by severe visual impairment, frequent surgical intervention requirement and relatively high penetrance.
PMID: 30612094 [PubMed - as supplied by publisher]
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Lei L, Li S, Liu X, Zhang C Tags: Br J Ophthalmol Source Type: research
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