Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Podobne zapisy

• Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
  od: Ramprasad, Vedam Lakshmi, i wsp.
  Wydane: (2008)
• Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
  od: Morimura, Hiroyuki, i wsp.
  Wydane: (1998)
• Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
  od: Sweeney, Meredith O., i wsp.
  Wydane: (2007)
• Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
  od: Srikrupa, Natarajan N., i wsp.
  Wydane: (2021)
• Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
  od: Wang, Hui, i wsp.
  Wydane: (2009)