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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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| Main Authors: | , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Frontiers Media S.A.
2012
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| Subjects: | |
| Online Access: | 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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