Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this biological module, mutations in genes that encode components of the cilium and its anchoring structure, the basal body, are the major contributors...

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Библиографические подробности
Главные авторы: Shaheen, Ranad, Shamseldin, Hanan E., Loucks, Catrina M., Seidahmed, Mohammed Zain, Ansari, Shinu, Ibrahim Khalil, Mohamed, Al-Yacoub, Nadya, Davis, Erica E., Mola, Natalie A., Szymanska, Katarzyna, Herridge, Warren, Chudley, Albert E., Chodirker, Bernard N., Schwartzentruber, Jeremy, Majewski, Jacek, Katsanis, Nicholas, Poizat, Coralie, Johnson, Colin A., Parboosingh, Jillian, Boycott, Kym M., Innes, A. Micheil, Alkuraya, Fowzan S.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2014
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882732/
https://ncbi.nlm.nih.gov/pubmed/24360803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.11.010
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