Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction-Reference-Cited by-同舟云学术

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

Published:2013-10 Issue:4 Volume:93 Page:727-734
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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