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A Novel MERTK Mutation Causing Retinitis Pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the prese...

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Bibliografske podrobnosti
izdano v:Graefes Arch Clin Exp Ophthalmol
Main Authors: Al-khersan, Hasenin, Shah, Kaanan P., Jung, Segun C., Rodriguez, Alex, Madduri, Ravi K., Grassi, Michael A.
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5542860/
https://ncbi.nlm.nih.gov/pubmed/28462455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-017-3679-9
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