SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Document Type
Journal Article
Publication Date
2-28-2019
Journal
Human mutation
DOI
10.1002/humu.23731
APA Citation
Ng, B., Sosicka, P., Agadi, S., Almannai, M., Bacino, C., Barone, R., Botto, L., Burton, J., Carlston, C., Chung, B., Cohen, J., Coman, D., Dipple, K., Dorrani, N., Dobyns, W., Elias, A., Epstein, L., Gahl, W., Garozzo, D., Hammer, T., Haven, J., Héron, D., Herzog, M., Hoganson, G., Hunter, J., Jain, M., Juusola, J., Lakhani, S., Lee, H., Lee, J., Lewis, K., Longo, N., Lourenço, C., Mak, C., McKnight, D., Mendelsohn, B., Mignot, C., Mirzaa, G., Mitchell, W., Muhle, H., Nelson, S., Olczak, M., Palmer, C., Partikian, A., Patterson, M., Pierson, T., Quinonez, S., Regan, B., Ross, M., Guillen Sacoto, M., Scaglia, F., Scheffer, I., Segal, D., Singhal, N., Striano, P., Sturiale, L., Symonds, J., Tang, S., Vilain, E., Willis, M., Wolfe, L., Yang, H., Yano, S., Powis, Z., Suchy, S., Rosenfeld, J., Edmondson, A., Grunewald, S., & Freeze, H. (2019). SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.. Human mutation, (). http://dx.doi.org/10.1002/humu.23731
Peer Reviewed
1