Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
by Wilson, Matthew P. (Author)
, Garanto, Alejandro (Author)
, Pinto e Vairo, Filippo (Author)
, Ng, Bobby G. (Author)
, Ranatunga, Wasantha K. (Author)
, Ventouratou, Marina (Author)
, Baerenfaenger, Melissa (Author)
, Huijben, Karin (Author)
, Thiel, Christian (Author)
, Ashikov, Angel (Author)
, Keldermans, Liesbeth (Author)
, Souche, Erika (Author)
, Vuillaumier-Barrot, Sandrine (Author)
, Dupré, Thierry (Author)
, Michelakakis, Helen (Author)
, Fiumara, Agata (Author)
, Pitt, James (Author)
, White, Susan M. (Author)
, Lim, Sze Chern (Author)
, Gallacher, Lyndon (Author)
, Peters, Heidi (Author)
, Rymen, Daisy (Author)
, Witters, Peter (Author)
, Ribes, Antonia (Author)
, Morales-Romero, Blai (Author)
, Rodríguez-Palmero, Agustí (Author)
, Ballhausen, Diana (Author)
, de Lonlay, Pascale (Author)
, Barone, Rita (Author)
, Janssen, Mirian C. H. (Author)
, Jaeken, Jaak (Author)
, Freeze, Hudson H. (Author)
, Matthijs, Gert (Author)
, Morava, Eva (Author)
, Lefeber, Dirk J. (Author)
,
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