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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Bibliographic Details
Main Authors: Zhang, Yan, Seo, Seongjin, Bhattarai, Sajag, Bugge, Kevin, Searby, Charles C., Zhang, Qihong, Drack, Arlene V., Stone, Edwin M., Sheffield, Val C.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2014
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Online Access: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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