OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

Autor: Kevelam, S.H., Taube, J.R., van Spaendonk, R.M.L., Bertini, E., Tarnopolsky, M., Tonduti, D., Bernard, G., Catsman-Berrevoets, C.E., van Karnebeek, C.D.M., Østergaard, J.R., Friederich, R.L., Fawzi, M., Schieving, J.H., Orcesi, S., Steenweg, M.E., Waisfisz, Q., Abbink, T.E.M., van der Knaap, M.S., Hobson, G.M., Wolf, N.I.
Zdroj: In European Journal of Paediatric Neurology May 2015 19 Supplement 1:S16-S16
Databáze: ScienceDirect
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