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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15.
J Hum Genet. 2010.
PMID: 20075945
Free article.
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.
Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A.
Vanakker OM, et al.
Lab Invest. 2010 Jun;90(6):895-905. doi: 10.1038/labinvest.2010.68. Epub 2010 Apr 5.
Lab Invest. 2010.
PMID: 20368697
Free article.
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Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
Vanakker OM, De Coen K, Costrop L, Coucke PJ, Vanhaesebrouck P, De Paepe A.
Vanakker OM, et al.
J Pediatr. 2011 Aug;159(2):347-9. doi: 10.1016/j.jpeds.2011.04.044. Epub 2011 Jun 24.
J Pediatr. 2011.
PMID: 21704322
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