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Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

Generalized arterial calcification of infancy (GACI) is a rare condition characterized by arterial calcification within the internal elastic lamina associated with intimal proliferation, leading to stenosis of great and medium-sized vessels. This disease, caused by mutations in multiple exons of ENP...

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Hlavní autoři: Galletti, Silvia, Nitschke, Yvonne, Malavolti, Anna M., Aquilano, Giulia, Faldella, Giacomo, Corvaglia, Luigi, Rutsch, Frank
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509810/
https://ncbi.nlm.nih.gov/pubmed/23430823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_11
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