An Ancestral 10bp Repeat Expansion in Gene Encoding Component of ECM Causes a Novel Autosomal-Recessive Peripheral Neuropathy
A. T. Pagnamenta, Y. Zou,S. Donkervoort, S. B. Neuhaus,R. Maroofian,N. Dominik, H. Y. Yip,A. H. Nemeth, M. O'Driscoll,F. Norwood,J. Rankin, T. Lavin,C. Marini-Bettolo,H. Jungbluth,L. Medne, S. Y. Yum,A. R. Foley,A. Need,M. Sedghi,B. Ansari,K. Basiri,A. R. Moslemi,H. Tajsharghi, C. C. Muraresku,Z. Zolkipli-Cunningham,S. Lassche,C. Marcelis, J. C. Taylor,C. G. Bonnemann,H. Houlden EUROPEAN JOURNAL OF HUMAN GENETICS(2020)
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