Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

Références BibTex

@Article{PBPTSACOUVBSFNFMMVVS15,
  author       = {Palagano, E. and Blair, H. and Pangrazio, A. and Tourkova, I. and Strina, D. and Angius, A. and Cuccuru, G. and Oppo, M. and Uva, P. and Van Hul, W. and Boudin, E. and Superti-Furga, A. and Faletra, F. and Nocerino, A. and Ferrari, M. and Monari, M. and Montanelli, A. and Vezzoni, P. and Villa, A. and Sobacchi, C.},
  title        = {Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis},
  journal      = {Journal of Bone and Mineral Research},
  year         = {2015},
  publisher    = {Wiley},
  keywords     = {Autosomal Recessive Osteopetrosis;TCIRG1;exome;hypomorphic mutation;splicing defect},
  doi          = {10.1002/jbmr.2517},
  url          = {https://publications.crs4.it/pubdocs/2015/PBPTSACOUVBSFNFMMVVS15},
}

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