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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2012
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| 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 |