Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Míreanna Comhchosúla

• A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
  le: Berry, V, et al.
  Foilsithe: (2018)
• Connexin46 mutations in autosomal dominant congenital cataract.
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  Foilsithe: (1999)
• A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
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  Foilsithe: (1998)
• Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract
  le: Berry, Vanita, et al.
  Foilsithe: (2020)
• A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
  le: Yang, Guoxing, et al.
  Foilsithe: (2011)