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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

✍ Scribed by Koehler, Katrin; Malik, Meera; Mahmood, Saqib; Gießelmann, Sebastian; Beetz, Christian; Hennings, J. Christopher; Huebner, Antje K.; Grahn, Ammi; Reunert, Janine; Nürnberg, Gudrun; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Mumtaz, Rizwan; Babovic-Vuksanovic, Dusica; Basel-Vanagaite, Lina; Borck, Guntram; Brämswig, Jürgen; Mühlenberg, Reinhard; Sarda, Pierre; Sikiric, Alma; Anyane-Yeboa, Kwame; Zeharia, Avraham; Ahmad, Arsalan; Coubes, Christine; Wada, Yoshinao; Marquardt, Thorsten; Vanderschaeghe, Dieter; Van Schaftingen, Emile; Kurth, Ingo; Huebner, Angela; Hübner, Christian A.

Book ID: 123508985
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 642 KB
Volume: 93
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.08.002

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