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"A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family in the Northeast of China."
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"The DNA sequence and biological annotation of human chromosome 1."
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"A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q."
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"Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract."
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"A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract."
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"Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract."
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"Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea."
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"A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts."
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"The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation."
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"Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract."
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"Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract."
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"Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
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Hum. Genet.132:761-770(2013) [PubMed] [Europe PMC] [Abstract]