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

Pigmentary glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris, called pigment dispersion syndrome (PDS), and its deposition throughout the anterior chamber of the eye. Although PG has a substantial heritable component, no causative genes have yet been ident...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Lahola-Chomiak, Adrian A, Footz, Tim, Nguyen-Phuoc, Kim, Neil, Gavin J, Fan, Baojian, Allen, Keri F, Greenfield, David S, Parrish, Richard K, Linkroum, Kevin, Pasquale, Louis R, Leonhardt, Ralf M, Ritch, Robert, Javadiyan, Shari, Craig, Jamie E, Allison, W T, Lehmann, Ordan J, Walter, Michael A, Wiggs, Janey L
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
Témata:
General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6452206/
https://ncbi.nlm.nih.gov/pubmed/30561643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy429
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