Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 by Kornak Uwe, Reynders Ellen, Dimopoulou Aikaterini, van Reeuwijk Jeroen, Fischer Bjoern, Rajab Anna, Budde Birgit, Nürnberg Peter, Foulquier Francois, ARCL Debré-type Study Group, Lefeber Dirk, Urban Zsolt, Gruenewald Stephanie, Annaert Wim, Brunner Han G, van Bokhoven Hans, Wevers Ron, Morava Eva, Matthijs Gert, Van Maldergem Lionel, Mundlos Stefan in Nature genetics (2008).

[PMID: 18157129] PubMed

Abstract

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