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[2P-321(2T07-07)] Heterozygous Loss-of-function Mutations in Angiopoietin Receptor TEK Cause Primary Congenital Glaucoma

^○Tomokazu Souma¹, Stuart Tompson², Benjamin Thomson¹, Jamie Craig³, Simon John⁴, Janey Wiggs⁵, Francesca Pasutto⁶, Jing Jin¹, Terri Young², Susan Quaggin¹ (1.Feinberg Cardiovascular Research Institute, Division of Nephrology, Northwestern University, USA., 2.Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, USA., 3.Department of Ophthalmology, Flinders University, Australia, 4.The Howard Hughes Medical Institute, and the Jackson Laboratory, USA., 5.Department of Ophthalmology, Harvard Medical School, USA., 6.Institute of Human Genetics, Friedrich-Alexander-University, Germany.)

Angiopoietin-TEK/Tie2シグナル, 緑内障