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Keywords: Retinal dystrophy
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Journal Articles

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Open Access
In collection:
Rare Disease Translational Research
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (8): dmm050557.
https://doi.org/10.1242/dmm.050557
Published: 30 July 2024
... function. Ribosomal rescue HBS1L Pelo Retinal dystrophy Photoreceptor cell National Institutes of Health http://dx.doi.org/10.13039/100000002 EY024963 EY010597 EY031765 EY028100 University of Miami http://dx.doi.org/10.13039/100006686 Research Simplified...
View article titled, HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells
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Includes: Supplementary data