BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Ciliopathies are a group of heterogeneous disorders associated with ciliary dysfunction. Diseases in this group display considerable phenotypic variation within individual syndromes and overlapping phenotypes among clinically distinct disorders. Particularly, mutations in CEP290 cause phenotypically...

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Autores principales: Zhang, Yan, Seo, Seongjin, Bhattarai, Sajag, Bugge, Kevin, Searby, Charles C., Zhang, Qihong, Drack, Arlene V., Stone, Edwin M., Sheffield, Val C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2014
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3857943/
https://ncbi.nlm.nih.gov/pubmed/23943788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt394
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