Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis

Antzeko izenburuak

• CEP290 gene transfer rescues Leber Congenital Amaurosis cellular phenotype
  nork: Burnight, E.R., et al.
  Argitaratua: (2014)
• Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
  nork: Yzer, Suzanne, et al.
  Argitaratua: (2012)
• Visual Acuity Changes in Patients with Leber Congenital Amaurosis (LCA) and Mutations in the CEP290 Gene
  nork: McAnany, J. Jason, et al.
  Argitaratua: (2013)
• Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
  nork: den Hollander, Anneke I., et al.
  Argitaratua: (2006)
• Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients
  nork: Collison, Frederick T., et al.
  Argitaratua: (2015)