Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Lignende værker

• Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus
  af: Mohamed, M D, et al.
  Udgivet: (2003)
• Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
  af: Srilekha, Sundaramurthy, et al.
  Udgivet: (2015)
• Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
  af: Jacobson, Samuel G., et al.
  Udgivet: (2009)
• A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
  af: Ali, Manir, et al.
  Udgivet: (2008)
• Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
  af: Ramprasad, Vedam Lakshmi, et al.
  Udgivet: (2008)