Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon GallacherHeidi Peters, Daisy Rymen, Peter Witters, Antonia Ribes, Blai Morales-Romero, Agustí Rodríguez-Palmero, Diana Ballhausen, Pascale de Lonlay, Rita Barone, Mirian C.H. Janssen, Jaak Jaeken, Hudson H. Freeze, Gert Matthijs, Eva Morava, Dirk J. Lefeber

Research output: Contribution to journal › Article › peer-review

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Medicine & Life Sciences