Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin long isoform, distinct from a short isoform by virtue of having two N-termi...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-05-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC2873905?pdf=render |