Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Autor: Lahola-Chomiak AA; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Footz T; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Nguyen-Phuoc K; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Neil GJ; Department of Biological Sciences, University of Alberta, Edmonton AB, Canada., Fan B; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Allen KF; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Greenfield DS; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Palm Beach Gardens, FL, USA., Parrish RK; Anne Bates Leach Eye Hospital, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Linkroum K; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Pasquale LR; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Leonhardt RM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Ritch R; Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA., Javadiyan S; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia., Craig JE; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia., Allison WT; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada.; Department of Biological Sciences, University of Alberta, Edmonton AB, Canada., Lehmann OJ; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada.; Department of Ophthalmology, University of Alberta, Edmonton AB, Canada., Walter MA; Department of Medical Genetics, University of Alberta, Edmonton AB, Canada., Wiggs JL; Ocular Genomics Institute and Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Apr 15; Vol. 28 (8), pp. 1298-1311.