23664118 |
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder
Ebrahimiadib, N,
Syx, D,
Hausser, I,
Symoens, S,
Malfait, F,
Gauche, C,
Kariminejad, A,
Vanhauwaert, S,
De Paepe, A,
Gulberti, S,
Huysseune, A,
Bozorgmehr, B,
Kariminejad, MH,
Van Damme, T,
Willaert, A,
Merhi-Soussi, F,
Fournel-Gigleux, S
|
Am. J. Hum. Genet. |
2013 |
23664117 |
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
Miyake, N,
Saitsu, H,
Iida, A,
Miyazaki, O,
Bonafe, L,
Cavalcanti, D,
Leal, GF,
Unger, S,
Mitsubuchi, H,
Lai, A,
Matsumoto, N,
Mizumoto, S,
Kitoh, H,
Superti-Furga, A,
Nakajima, M,
Hirayama, A,
Horikawa, R,
Ikegawa, S,
Kogawa, R,
Nishimura, G,
Ito, H,
Chitayat, D,
Tsurusaki, Y,
Sugahara, K,
Kosaki, R,
Ohashi, H,
Mendoza-Londono, R,
Lausch, E,
Howard, A,
Watanabe, S,
Dupuis, L
|
Am. J. Hum. Genet. |
2013 |