The phenotypic variability of HK1-associated retinal dystrophy

Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying gene...

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Udgivet i:Sci Rep
Main Authors: Yuan, Zhisheng, Li, Baiyu, Xu, Mingchu, Chang, Emmanuel Y., Li, Huajin, Yang, Lizhu, Wu, Shijing, Soens, Zachry T., Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Sui, Ruifang, Chen, Rui
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5539152/
https://ncbi.nlm.nih.gov/pubmed/28765615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-07629-3
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