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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...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Bolch, Susan N., Dugger, Donald R., Chong, Timothy, McDowell, J. Hugh, Smith, W. Clay
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750968/
https://ncbi.nlm.nih.gov/pubmed/26867008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0148773
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