IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in...

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Autors principals: Aldahmesh, Mohammed A., Li, Yuanyuan, Alhashem, Amal, Anazi, Shams, Alkuraya, Hisham, Hashem, Mais, Awaji, Ali A., Sogaty, Sameera, Alkharashi, Abdullah, Alzahrani, Saeed, Al Hazzaa, Selwa A., Xiong, Yong, Kong, Shanshan, Sun, Zhaoxia, Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4047285/
https://ncbi.nlm.nih.gov/pubmed/24488770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu044
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