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Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

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Bibliographic Details
Published in:Brain
Main Authors: Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., North, Kathryn N.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
Subjects:
Letters to the Editor
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4719680/
https://ncbi.nlm.nih.gov/pubmed/26063657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv160
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