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[2T07-07(2P-321)] 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

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