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http://hdl.handle.net/2067/30669
Title: | Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy | Authors: | Flex, E. Chillemi, Giovanni Chandramouli, B. Carpentieri, G. Haaxma Ca Ciolfi, A. Pizzi, S. Douglas Gv Levine, K. Sferra, A. Dentici Ml Niceta, M. Pfundt Rr Le Pichon Jb Farrow, E. Baas, F. Piemonte, F. Dallapiccola, B. Graham Saunders Cj Bertini, E. Kahn Ra Cecchetti, S. Koolen Da Tartaglia, M. Thiffault, I. Au Mg Capuano, A. Piermarini, E. Ivanova Aa Francis Jw |
Journal: | AMERICAN JOURNAL OF HUMAN GENETICS | Issue Date: | 2016 | URI: | http://hdl.handle.net/2067/30669 | DOI: | 10.1016/j.ajhg.2016.08.003 |
Appears in Collections: | A1. Articolo in rivista |
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