1 Ocak 2015 Dergi makalesi Açık Erişim

Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip L. S. M.; Esko, Jeffrey D.; Buschman, Matthew D.; Field, Seth J.; Napolitano, Gennaro; Napolitano, Gennaro

BibTeX

@article{akizu_naiara_2015_114222,
  author       = {Akizu, Naiara and
                  Cantagrel, Vincent and
                  Zaki, Maha S. and
                  Al-Gazali, Lihadh and
                  Wang, Xin and
                  Rosti, Rasim Ozgur and
                  Dikoglu, Esra and
                  Gelot, Antoinette Bernabe and
                  Rosti, Basak and
                  Vaux, Keith K. and
                  Scott, Eric M. and
                  Silhavy, Jennifer L. and
                  Schroth, Jana and
                  Copeland, Brett and
                  Schaffer, Ashleigh E. and
                  Gordts, Philip L. S. M. and
                  Esko, Jeffrey D. and
                  Buschman, Matthew D. and
                  Field, Seth J. and
                  Napolitano, Gennaro and
                  Napolitano, Gennaro},
  title        = {{Biallelic mutations in SNX14 cause a syndromic 
                   form of cerebellar atrophy and lysosome-
                   autophagosome dysfunction}},
  journal      = {NATURE GENETICS},
  year         = 2015,
  volume       = 47,
  number       = 5,
  pages        = {528-U137},
  month        = jan,
}