TY  - GEN
AU  - Laurie,Kate J
AU  - Dave,Alpana
AU  - Straga,Tania
AU  - Souzeau,Emmanuelle
AU  - Chataway,Timothy
AU  - Sykes,Matthew J
AU  - Casey,Theresa
AU  - Teo,Theodosia
AU  - Pater,John
AU  - Craig,Jamie E
AU  - Sharma,Shiwani
AU  - Burdon,Kathryn P
TI  - Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family
SN  - 1098-1004
PY  - 2013///0812
KW  - Blotting, Western
KW  - Cataract
KW  - congenital
KW  - Crystallins
KW  - genetics
KW  - Genes, Dominant
KW  - Heterozygote
KW  - Humans
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - South Australia
KW  - alpha-Crystallins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22260
ER  -