BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
Mutations in the human EYA1 gene have been associated with several human diseases including branchio-oto (BO) and branchio-oto-renal (BOR) syndrome, as well as congenital cataracts and ocular anterior segment anomalies. BOR patients suffer from severe malformations of the ears, branchial arches and...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science (PLoS)
2014-01-01
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| Serie: | PLoS ONE |
| Accesso online: | http://europepmc.org/articles/PMC3906160?pdf=render |
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