Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings-Reference-Cited by-同舟云学术

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

Published:2021-11 Issue:11 Volume:108 Page:2130-2144
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference37 articles.

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