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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 (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant...

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Detalhes bibliográficos
Main Authors: Nitschke, Yvonne, Rutsch, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3529400/
https://ncbi.nlm.nih.gov/pubmed/23269929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2012.00302
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