SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

Por Hannibal, M C., Ruzzo, E K., Miller, L R., Betz, B, Buchan, J G., Knutzen, D M., Barnett, K, Landsverk, M L., Brice, A, LeGuern, E, Bedford, H M., Worrall, B B., Lovitt, S, Appel, S H., Andermann, E, Bird, T D., Chance, P F.
Publicado em 2009

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Por Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Publicado em 2009