Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
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
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