Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

Antzeko izenburuak

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• AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis
  nork: Boye, Sanford L., et al.
  Argitaratua: (2013)
• Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
  nork: Perrault, I, et al.
  Argitaratua: (2003)
• Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
  nork: Perrault, Isabelle, et al.
  Argitaratua: (2004)
• Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
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  Argitaratua: (1999)