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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538040/
https://www.ncbi.nlm.nih.gov/pubmed/23304066

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