Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
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| Auteurs | Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O and Villard L |
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| Année | 2 013 |
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| url DOI | 10.1016/j.ajhg.2013.07.023 |