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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Skeletal ciliopathies are a heterogeneous group of autosomal recessive osteochondrodysplasias caused by defects in formation, maintenance and function of the primary cilium. Mutations in the underlying genes affect the molecular motors, intraflagellar transport complexes (IFT), or the basal body. Th...

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Detalles Bibliográficos
Autores principales:	Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486972/ https://www.ncbi.nlm.nih.gov/pubmed/26130459 http://dx.doi.org/10.1038/srep11649

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