Article
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Nature genetics - 1 Aug 2003
Rutsch Frank, Ruf Nico, Vaingankar Sucheta, Toliat Mohammad R, Suk Anita, Höhne Wolfgang, Schauer Galen, Lehmann Mandy, Roscioli Tony, Schnabel Dirk, Epplen Jörg T, Knisely Alex, Superti-Furga Andrea, McGill James, Filippone Marco, Sinaiko Alan R, Vallance Hillary, Hinrichs Bernd, Smith Wendy, Ferre Merry, Terkeltaub Robert, Nürnberg Peter
Abstract excerpt
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme...
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