Gains-of-glycosylation: a large group of pathogenic loss-of-function mutations amenable to chemical complementation in humans

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Vogt, G, Chapgier, A, Yang, K, Chuzhanova, N ORCID: https://orcid.org/0000-0002-4655-3618, Feinberg, J, Fieschi, C, Boisson-Dupois, S, Alcais, A, Filipe-Santos, O, Bustamente, J, De, Beaucoudrey, Al-Mohsen, I, Al-Hajjar, S, Al-Ghonaium, A, Adimi, P, Mirsaeidi, M, Khalilzadeh, S, De, la, Bauer, TR, Puck, JM, Ochs, HD, Furthner, D, Belohradsky, B, Mansouri, D, Schreiber, RD, Abel, L, Cooper, DN, Soudais, C and Casanova, JL, 2005. Gains-of-glycosylation: a large group of pathogenic loss-of-function mutations amenable to chemical complementation in humans. Nature Genetics, 37, pp. 692-700.

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Item Type:	Journal article
Publication Title:	Nature Genetics
Creators:	Vogt, G., Chapgier, A., Yang, K., Chuzhanova, N., Feinberg, J., Fieschi, C., Boisson-Dupois, S., Alcais, A., Filipe-Santos, O., Bustamente, J., De, B., Al-Mohsen, I., Al-Hajjar, S., Al-Ghonaium, A., Adimi, P., Mirsaeidi, M., Khalilzadeh, S., De, L., Bauer, T.R., Puck, J.M., Ochs, H.D., Furthner, D., Belohradsky, B., Mansouri, D., Schreiber, R.D., Abel, L., Cooper, D.N., Soudais, C. and Casanova, J.L.
Date:	2005
Volume:	37
Divisions:	Schools > School of Science and Technology
Record created by:	EPrints Services
Date Added:	09 Oct 2015 10:39
Last Modified:	09 Jun 2017 13:35
URI:	https://irep.ntu.ac.uk/id/eprint/16277