TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rar...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Sferra, Antonella, Baillat, Gilbert, Rizza, Teresa, Barresi, Sabina, Flex, Elisabetta, Tasca, Giorgio, D’Amico, Adele, Bellacchio, Emanuele, Ciolfi, Andrea, Caputo, Viviana, Cecchetti, Serena, Torella, Annalaura, Zanni, Ginevra, Diodato, Daria, Piermarini, Emanuela, Niceta, Marcello, Coppola, Antonietta, Tedeschi, Enrico, Martinelli, Diego, Dionisi-Vici, Carlo, Nigro, Vincenzo, Dallapiccola, Bruno, Compagnucci, Claudia, Tartaglia, Marco, Haase, Georg, Bertini, Enrico
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2016
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065657/
https://ncbi.nlm.nih.gov/pubmed/27666369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.006
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