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A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
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A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008 Mar; 45(3):155-60.
View in:
PubMed
subject areas
Amino Acid Substitution
Animals
Base Sequence
Cataract
Cloning, Molecular
Connexins
DNA Primers
DNA, Complementary
Eye Proteins
Female
Genes, Dominant
HeLa Cells
Humans
In Vitro Techniques
Male
Mice
Mutagenesis, Site-Directed
Oocytes
Pedigree
Phenotype
Recombinant Proteins
Transfection
Xenopus laevis
authors with profiles
Eric C. Beyer