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A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina
PURPOSE: Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5) protein. BBS5 is one component of the B...
Autores principales: | Bolch, Susan N., Dugger, Donald R., Chong, Timothy, McDowell, J. Hugh, Smith, W. Clay |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750968/ https://www.ncbi.nlm.nih.gov/pubmed/26867008 http://dx.doi.org/10.1371/journal.pone.0148773 |
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