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Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant subset of GACI cases, and ENPP1 mutations ca...

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Bibliografiske detaljer
Main Authors: Yvonne eNitschke, Frank eRutsch
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2012-12-01
Serier:Frontiers in Genetics
Fag:
PXE
Online adgang:http://journal.frontiersin.org/Journal/10.3389/fgene.2012.00302/full
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