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

In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. Mutations in GMPPA were subsequently found in...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791256/
https://ncbi.nlm.nih.gov/pubmed/24035193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.002
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