The phenotypic variability of HK1-associated retinal dystrophy

The phenotypic variability of HK1-associated retinal dystrophy

Abstract 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 underl...

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Bibliographic Details
Main Authors: Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen
Format: article
Language:EN
Published: Nature Portfolio 2017
Subjects:
Medicine
R
Science
Q
Online Access:https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac
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https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac

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