Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull’s eye maculopathy

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 {%raw%}@article{collison2015whole,
  title = {Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull’s eye maculopathy},
  author = {Collison, Frederick T and Xie, Yajing and Gambin, Tomasz and Jhangiani, Shalini and Muzny, Donna and Gibbs, Richard and Lupski, James R and Fishman, Gerald A and Allikmets, Rando},
  journal = {Ophthalmic genetics},
  volume = {36},
  number = {3},
  pages = {270--275},
  year = {2015},
  publisher = {Informa Healthcare},
  public = {yes}
}
{%endraw%}