EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

Antzeko izenburuak

• Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
  nork: Dave, Alpana, et al.
  Argitaratua: (2013)
• Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
  nork: Javadiyan, Shari, et al.
  Argitaratua: (2017)
• Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract
  nork: Javadiyan, Shari, et al.
  Argitaratua: (2016)
• The status of intercellular junctions in established lens epithelial cell lines
  nork: Dave, Alpana, et al.
  Argitaratua: (2012)
• Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
  nork: Siggs, Owen M, et al.
  Argitaratua: (2017)