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Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, MYOC. Here, we report the identification of a novel MYOC variant, c.1153G>A, in a 24-yr-old female pa...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Cold Spring Harb Mol Case Stud
Main Authors: Criscione, June, Ji, Weizhen, Jeffries, Lauren, McGrath, James M., Soloway, Scott, Pusztai, Lajos, Lakhani, Saquib
פורמט: Artigo
שפה:Inglês
יצא לאור: Cold Spring Harbor Laboratory Press 2019
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913140/
https://ncbi.nlm.nih.gov/pubmed/31653660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004374
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