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Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

BACKGROUND: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and renal abnormalities. Together with Alström...

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Detalles Bibliográficos
Autores principales:	Eintracht, Jonathan, Forsythe, Elizabeth, May-Simera, Helen, Moosajee, Mariya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353411/ https://www.ncbi.nlm.nih.gov/pubmed/34365092 http://dx.doi.org/10.1016/j.ebiom.2021.103515

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