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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Bibliografiske detaljer
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2014
Fag:
Report
Online adgang: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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