Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Références BibTex

@Article{PPOVZVGLRAVSVS14,
  author       = {Pangrazio, A. and Puddu, A. and Oppo, M. and Valentini, M. and Zammataro, L. and Vellodi, A. and Gener, B. and Liano-Rivas, I. and Raza, J. and Aatta, I. and Vezzoni, P. and Superti-Fuga, A. and Villa, A. and Sobacchi, C.},
  title        = {Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis},
  journal      = {Bone},
  number       = {59},
  volume       = {59 },
  pages        = {122-126},
  month        = {february},
  year         = {2014},
  publisher    = {Elsevier},
  keywords     = {Exome sequencing, CTSK, Sclerosing bone disorder, Differential diagnosis, Therapy},
  doi          = {10.1016/j.bone.2013.11.014},
  url          = {https://publications.crs4.it/pubdocs/2014/PPOVZVGLRAVSVS14},
}

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