Expanding the Phenotype Associated With the<i>NEFL</i>Mutation

JAMA Neurology - Tập 71 Số 11 - Trang 1413 - 2014
Pankaj B. Agrawal1, Mugdha Joshi1, Nicholas S. Marinakis1, Klaus Schmitz‐Abe1, Pedro Ciarlini2,3, Jane Sargent4, Kyriacos Markianos1, Umberto De Girolami2, David A. Chad5, Alan H. Beggs1
1Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts
2Broad Institute, Massachusetts Institute of Technology, Cambridge
3Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts
4Department of Neurology, University of Massachusetts Medical School, Worcester
5Department of Neurology, Massachusetts General Hospital, Boston

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