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Bardet–Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in 21 genes have been linked to BBS. The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a comp...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Dilan, Tanya L, Singh, Ratnesh K, Saravanan, Thamaraiselvi, Moye, Abigail, Goldberg, Andrew F X, Stoilov, Peter, Ramamurthy, Visvanathan
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886228/
https://ncbi.nlm.nih.gov/pubmed/29126234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx399
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