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Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

PURPOSE: To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations. METHODS: Family members of the proband underwent comprehensive ocular clinical examination and DNA sequ...

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Detalles Bibliográficos
Autores principales:	Young, Thomas K., Souzeau, Emmanuelle, Liu, Lance, Kearns, Lisa S., Burdon, Kathryn P., Craig, Jamie E., Ruddle, Jonathan B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538040/ https://www.ncbi.nlm.nih.gov/pubmed/23304066

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