Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
TBCD 基因的双等位基因突变编码微管折叠辅因子 D，扰乱微管动力学并导致早发性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.08.003
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 Jr, Saunders Carol J, Bertini Enrico, Kahn Richard A, Koolen David A, Tartaglia Marco
