TRNT1 deficiency: clinical, biochemical and molecular genetic features

  • Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton, Shamima Rahman
  • Orphanet Journal of Rare Diseases, July 2016, Springer Science + Business Media
  • DOI: 10.1186/s13023-016-0477-0

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http://dx.doi.org/10.1186/s13023-016-0477-0