NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK...

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Main Authors: Thiel, Christian, Kessler, Kristin, Giessl, Andreas, Dimmler, Arno, Shalev, Stavit A., von der Haar, Sigrun, Zenker, Martin, Zahnleiter, Diana, Stöss, Hartmut, Beinder, Ernst, Abou Jamra, Rami, Ekici, Arif B., Schröder-Kreß, Nadja, Aigner, Thomas, Kirchner, Thomas, Reis, André, Brandstätter, Johann H., Rauch, Anita
格式: Artigo
語言:Inglês
出版: Elsevier 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014367/
https://ncbi.nlm.nih.gov/pubmed/21211617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.004
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