Severe manifestations in carrier females in X linked retinitis pigmentosa.

Eitemau Tebyg

• Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
  gan: Rozet, J, et al.
  Cyhoeddwyd: (2002)
• 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
  gan: Rozet, J., et al.
  Cyhoeddwyd: (1999)
• Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
  gan: Perrault, I, et al.
  Cyhoeddwyd: (1999)
• Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
  gan: Perrault, I, et al.
  Cyhoeddwyd: (2003)
• Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
  gan: Perrault, Isabelle, et al.
  Cyhoeddwyd: (2004)