Gap junction alpha-8 protein
Definition:
References:
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[1]. A Arora, et al. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008 Mar;45(3):155-60. [Content Brief]
[2]. Jochen Graw, et al. The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol Vis. 2009 Sep 14;15:1881-5. [Content Brief]
[3]. Aixia Jin, et al. Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract. Front Cell Dev Biol. 2022 Apr 21;10:794837. [Content Brief]
[4]. A Arora, et al. A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet. 2006 Jan;43(1):e2. [Content Brief]
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