About: Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus   Goto Sponge  NotDistinct  Permalink

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Author
Bibliographic Citation
  • Cacciagli Pierre, Sutera-Sardo Julie, Borges-Correia Ana, Roux Jean-Christophe, Dorboz Imen, Desvignes Jean-Pierre, Badens Catherine, Délépine Marc, Lathrop Mark, Cau Pierre, Lévy Nicolas, Girard Nadine, Sarda Pierre, Boespflug-Tanguy Odile. Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
  • Cacciagli Pierre, Sutera-Sardo Julie, Borges-Correia Ana, Roux Jean-Christophe, Dorboz Imen, Desvignes Jean-Pierre, Badens Catherine, Délépine Marc, Lathrop Mark, Cau Pierre, Lévy Nicolas, Girard Nadine, Sarda Pierre, Boespflug-Tanguy Odile. Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
Title
  • Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
dc:date
  • 2013
Digital Object Identifier (DOI)
  • 10.1016/j.ajhg.2013.07.023
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