A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

Hu, Shanshan

A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. [electronic resource] - Molecular vision Aug 2010 - 1585-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1090-0535


Amino Acid Sequence
Asian People--genetics
Base Sequence
Cataract--congenital
Child
Child, Preschool
China
Connexins--chemistry
Cornea--pathology
DNA Mutational Analysis
Eye Proteins--chemistry
Female
Genes, Dominant--genetics
Humans
Hydrophobic and Hydrophilic Interactions
Male
Molecular Sequence Data
Mutation--genetics
Pedigree
Protein Structure, Secondary
Syndrome