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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
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- المؤلفون: Wilson, Matthew P.; 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.
- المصدر:
The American Journal of Human Genetics ; volume 108, issue 11, page 2130-2144 ; ISSN 0002-9297
- نوع التسجيلة:
article in journal/newspaper
- اللغة:
English
- معلومة اضافية
- بيانات النشر:
Elsevier BV
- الموضوع:
2021
- Collection:
ScienceDirect (Elsevier - Open Access Articles via Crossref)
- الرقم المعرف:
10.1016/j.ajhg.2021.09.012
- الدخول الالكتروني :
http://dx.doi.org/10.1016/j.ajhg.2021.09.012
https://api.elsevier.com/content/article/PII:S0002929721003487?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003487?httpAccept=text/plain
- Rights:
https://www.elsevier.com/tdm/userlicense/1.0/ ; http://www.elsevier.com/open-access/userlicense/1.0/
- الرقم المعرف:
edsbas.9C8B9B08
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