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Journal article
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler, Katrin
Malik, Meera
Mahmood, Saqib
Gießelmann, Sebastian
Beetz, Christian
Hennings, J Christopher
Huebner, Antje K
Grahn, Ammi
[UCL]
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
[UCL]
Kurth, Ingo
Huebner, Angela
Hübner, Christian A
(2013)
American Journal of Human Genetics — Vol. 93, no.4, p. 727-734 (2013)