Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, respectively. Usherin is essential for photoreceptor survival and hair cell...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-01-01
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Series: | Computational and Structural Biotechnology Journal |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2001037020302889 |