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...

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Detalles Bibliográficos
Autores principales: Yang, Jun, Liu, Xiaoqing, Zhao, Yun, Adamian, Michael, Pawlyk, Basil, Sun, Xun, McMillan, D. Randy, Liberman, M. Charles, Li, Tiansen
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873905/
https://www.ncbi.nlm.nih.gov/pubmed/20502675
http://dx.doi.org/10.1371/journal.pgen.1000955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873905/
https://www.ncbi.nlm.nih.gov/pubmed/20502675
http://dx.doi.org/10.1371/journal.pgen.1000955

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