Mutations in BCAP31 Cause a Severe X-Linked Phenotype with...

The American Journal of Human Genetics 2013 / 09 Vol. 93; Iss. 3

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

Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas,
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Volume:
93
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2013.07.023
Date:
September, 2013
File:
PDF, 1.41 MB
english, 2013
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