The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.
Mutations in CLRN1 cause Usher syndrome type IIIA (USH3A), an autosomal recessive disorder characterized by hearing and vision loss, and often accompanied by vestibular dysfunction. The identity of the cell types responsible for the pathology and mechanisms leading to vision loss in USH3A remains el...
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| Main Authors: | Hannah J T Nonarath, Samantha L Simpson, Tricia L Slobodianuk, Hai Tran, Ross F Collery, Astra Dinculescu, Brian A Link |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2025-03-01
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| Series: | PLoS Genetics |
| Online Access: | https://doi.org/10.1371/journal.pgen.1011205 |
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