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The many faces of KIF7
Mutations in KIF7, the gene that encodes a component of the kinesin complex of anterograde intraflagellar transport in the cilia, have been reported to cause a range of phenotypes including hydrolethalis, acrocallosal syndrome and Joubert syndrome. In a cohort of patients with various neurogenetic p...
Autores principales: | Barakeh, Duna, Faqeih, Eissa, Anazi, Shams, S Al-Dosari, Mohammed, Softah, Ameen, Albadr, Fahad, Hassan, Hamdy, Alazami, Anas M, Alkuraya, Fowzan S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785560/ https://www.ncbi.nlm.nih.gov/pubmed/27081521 http://dx.doi.org/10.1038/hgv.2015.6 |
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