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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch
American Journal of Human Genetics, Volume 99, Number 1, page 236-245 - july 2016

Références BibTex

@Article{AUBOPOPLMHCF.ZCCR16,
  author       = {Angius, A. and Uva, P. and Buers, I. and Oppo, M. and Puddu, A. and Onano, S. and Persico, I. and Loi, A. and Marcia, L. and Höhne, W. and Cuccuru, G. and Fotia, G. and ...,  . and Zampino, G. and Crisponi, G. and Crisponi, L. and Rutsch, F.},
  title        = {Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa},
  journal      = {American Journal of Human Genetics},
  number       = {1},
  volume       = {99},
  pages        = {236-245},
  month        = {july},
  year         = {2016},
  keywords     = {next generation sequencing, exome},
  doi          = {10.1016/j.ajhg.2016.05.026},
  url          = {http://publications.crs4.it/pubdocs/2016/AUBOPOPLMHCF.ZCCR16},
}

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» Gianmauro Cuccuru
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» ...
» G Zampino
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