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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486972/
https://ncbi.nlm.nih.gov/pubmed/26130459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep11649
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