A third locus for dominant optic atrophy on chromosome 22q

Podobne zapisy

• Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele
  od: Perrault, I, i wsp.
  Wydane: (2003)
• The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
  od: Ducroq, Dominique, i wsp.
  Wydane: (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
  od: Rozet, J., i wsp.
  Wydane: (1999)
• Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
  od: Perrault, Isabelle, i wsp.
  Wydane: (2004)
• Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
  od: Rozet, J, i wsp.
  Wydane: (2002)