Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

PURPOSE: To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants. METHODS: A total of 122 and 65 unrelated HTG and NTG participants, respectively, with early onset advanced P...

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Detalles Bibliográficos
Autores principales: Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Lynn, David J., Burdon, Kathryn P., Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338784/
https://www.ncbi.nlm.nih.gov/pubmed/28264060
http://dx.doi.org/10.1371/journal.pone.0172427

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338784/
https://www.ncbi.nlm.nih.gov/pubmed/28264060
http://dx.doi.org/10.1371/journal.pone.0172427

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