A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

被引：0
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作者：
Rosa Campopiano
Rosangela Ferese
Stefania Zampatti
Emiliano Giardina
Francesca Biagioni
Claudio Colonnese
Diego Centonze
Marianna Storto
Fabio Buttari
Edoardo Fraviga
Vania Broccoli
Mirco Fanelli
Francesco Fornai
Stefano Gambardella
机构：
[1] I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDM
[2] Santa Lucia Foundation IRCCS,Department of Biomedicine and Prevention
[3] University of Rome “Tor Vergata”,Dipartimento di Medicina dei Sistemi
[4] Università di Roma Tor Vergata,Department of Biomolecular Sciences
[5] Stem Cell and Neurogenesis Unit,Department of Translational Research and New Technologies in Medicine and Surgery
[6] Division of Neuroscience,undefined
[7] San Raffaele Scientific Institute,undefined
[8] CNR Institute of Neuroscience,undefined
[9] University of Urbino “Carlo Bo”,undefined
[10] University of Pisa,undefined
来源：
BMC Neurology | / 20卷
关键词：
mutations; Hypomyelinating leukodystrophies; Age of onset; Brain;
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