NT5E mutations and arterial calcifications.

@article{Hilaire2011NT5EMA,
  title={NT5E mutations and arterial calcifications.},
  author={Cynthia St Hilaire and Shira G Ziegler and Thomas C Markello and Alfredo Brusco and Catherine A. Groden and Fred A. Gill and Hannah Carlson-Donohoe and Robert J. Lederman and Marcus Y. Chen and Dan Yang and Michael P. Siegenthaler and Carlo Arduino and C. Bruna Mancini and Bernard Freudenthal and Horia C. Stanescu and Anselm Andreas Zdebik and R. Krishna Chaganti and Robert L Nussbaum and Robert Kleta and William A Gahl and Manfred Dr Ing Boehm},
  journal={The New England journal of medicine},
  year={2011},
  volume={364 5},
  pages={
          432-42
        }
}
BACKGROUND Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear. METHODS We performed clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications. Single-nucleotide-polymorphism analysis, targeted gene sequencing, quantitative polymerase-chain-reaction assays, Western blotting, enzyme measurements, transduction rescue experiments, and in vitro calcification assays were… CONTINUE READING
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