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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Published on 2 October 2023
Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
Description
 
Date de publication 
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
Revue
Année2,013
Département / Service
IG/CNG
Laboratoire
LMPD
Impact Factor 
Institut IG
url DOI10.1016/j.ajhg.2013.07.023

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