Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcification of large and medium sized arteries, associated with early myocardial infarction, heart failure, and stroke, and premature death. Most cases of GACI are caused by mutation...

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Hlavní autoři: Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3945730/
https://ncbi.nlm.nih.gov/pubmed/24008425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2013.370
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