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Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency : Compound Heterozygosity for Mutations in the GGCX Gene

Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, eyes, and cardiovascular system. The classic forms of PXE are due to mutations in the ABCC6 gene that encodes the ABCC6 protein, a putative...

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Main Authors: Li, Qiaoli, Schurgers, Leon J., Smith, Ann C.M., Tsokos, Maria, Uitto, Jouni, Cowen, Edward W.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2630561/
https://ncbi.nlm.nih.gov/pubmed/19116367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2009.080865
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