Zobrazeno 1 - 1
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pro vyhledávání: '"genetics [Pelizaeus-Merzbacher Disease]"'
Autor:
Giorgio, E, Rolyan, H, Kropp, L, Chakka, Ab, Yatsenko, S, Di Gregorio, E, Lacerenza, D, Vaula, G, Talarico, F, Mandich, Paola, Toro, C, Pierre, Ee, Labauge, P, Capellari, S, Cortelli, P, Vairo, Fp, Miguel, D, Stubbolo, D, Marques, Lc, Gahl, W, Boespflug Tanguy, O, Melberg, A, Hassin Baer, S, Cohen, Os, Pjontek, R, Grau, A, Klopstock, T, Fogel, B, Meijer, I, Rouleau, G, Bouchard, Jp, Ganapathiraju, M, Vanderver, A, Dahl, N, Hobson, G, Brusco, A, Brussino, A, Padiath, Qs
Publikováno v:
Human Mutation
Human mutation 34(8), 1160-1171 (2013). doi:10.1002/humu.22348
Human mutation 34(8), 1160-1171 (2013). doi:10.1002/humu.22348
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::641651cf6ec216a64f30bb2a913aac23
http://hdl.handle.net/11585/145895
http://hdl.handle.net/11585/145895
