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The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
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The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol Vis. 2009 Sep 14; 15:1881-5.
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PubMed
subject areas
Adult
Aged
Alleles
Amino Acid Sequence
Amino Acid Substitution
Base Sequence
Cataract
Connexins
Eye Proteins
Family
Female
Gap Junctions
HeLa Cells
Humans
Male
Middle Aged
Molecular Sequence Data
Mutant Proteins
Mutation
Pedigree
Polymorphism, Genetic
Transfection
authors with profiles
Eric C. Beyer