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

BibTex references

@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          = {https://publications.crs4.it/pubdocs/2016/AUBOPOPLMHCF.ZCCR16},
}

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