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Beyer, Eric C.
One or more keywords matched the following items that are connected to
Beyer, Eric C.
Item Type
Name
Concept
Amino Acid Substitution
Academic Article
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
Academic Article
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
Academic Article
An intact connexin N-terminus is required for function but not gap junction formation.
Academic Article
Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50.
Academic Article
Connexin43 with a cytoplasmic loop deletion inhibits the function of several connexins.
Academic Article
The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses.
Search Criteria
Amino Acid Substitution