Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U; Reynders E; Dimopoulou A; van Reeuwijk J; Fischer B; Rajab A; Budde B; Nürnberg P; Foulquier F; Lefeber D; Urban Z; Gruenewald S; Annaert W; Brunner HG; van Bokhoven H; Wevers R; Morava E; Matthijs G; Van Maldergem L; Mundlos S; Nature Genetics, 2008, vol. 40, issue 1, p 32, ISSN 15461718. ISBN 15461718.

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