17033958 |
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Urinovská, J,
Roquis, D,
Beesley, CE,
Seyrantepe, V,
Maire, I,
Roslin, NM,
Fujiwara, TM,
Hartmannová, H,
Kmoch, S,
Durand, S,
Morgan, K,
Hudson, TJ,
Pshezhetsky, AV,
Zeman, J,
Stranecký, V,
Poupetová, H,
van Diggelen, OP,
Nosková, L,
Hrebícek, M,
Majewski, J,
Mrázová, L,
Poorthuis, BJ,
Sikora, J,
Cízkova, A,
van de Kamp, J,
Lepage, P,
Wevers, RA,
Ausseil, J,
Verner, A,
Ivánek, R
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Am J Hum Genet |
2006 |