Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause ne...

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Detaylı Bibliyografya
Asıl Yazarlar: Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: Elsevier 2016
Konular:
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Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC5065658/
https://pubmed.ncbi.nlm.nih.gov/27666370
http://dx.doi.org/10.1016/j.ajhg.2016.08.003
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC5065658/
https://pubmed.ncbi.nlm.nih.gov/27666370
http://dx.doi.org/10.1016/j.ajhg.2016.08.003

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