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

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Authors: 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 Gallacher, Heidi Peters, Daisy Rymen, Peter Witt

Journal title: The American Journal of Human Genetics

Journal number: 108/11

Journal publisher: University of Chicago Press

Published year: 2021

Published pages: 2130-2144

DOI identifier: 10.1016/j.ajhg.2021.09.012

ISSN: 0002-9297