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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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Detalles Bibliográficos
Autores principales: Nitschke, Yvonne, Rutsch, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529400/
https://www.ncbi.nlm.nih.gov/pubmed/23269929
http://dx.doi.org/10.3389/fgene.2012.00302