Laurie, Kate J

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