TY  - GEN
AU  - Raychaudhuri,Soumya
AU  - Iartchouk,Oleg
AU  - Chin,Kimberly
AU  - Tan,Perciliz L
AU  - Tai,Albert K
AU  - Ripke,Stephan
AU  - Gowrisankar,Sivakumar
AU  - Vemuri,Soumya
AU  - Montgomery,Kate
AU  - Yu,Yi
AU  - Reynolds,Robyn
AU  - Zack,Donald J
AU  - Campochiaro,Betsy
AU  - Campochiaro,Peter
AU  - Katsanis,Nicholas
AU  - Daly,Mark J
AU  - Seddon,Johanna M
TI  - A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
SN  - 1546-1718
PY  - 2012///0120
KW  - Aged
KW  - Aged, 80 and over
KW  - Case-Control Studies
KW  - Complement Factor H
KW  - genetics
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Haplotypes
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Linkage Disequilibrium
KW  - Macular Degeneration
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Penetrance
KW  - Polymorphism, Single Nucleotide
KW  - Principal Component Analysis
KW  - Risk Factors
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.976
ER  -