Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. [electronic resource]
- Human mutation Mar 2013
- 435-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22260 doi
Blotting, Western Cataract--congenital Crystallins--genetics Genes, Dominant Heterozygote Humans Mutation, Missense Pedigree Phenotype South Australia alpha-Crystallins--genetics