A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Raychaudhuri, Soumya

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. [electronic resource] - Nature genetics Oct 2011 - 1232-6 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.976 doi


Aged
Aged, 80 and over
Case-Control Studies
Complement Factor H--genetics
Female
Genetic Predisposition to Disease
Haplotypes
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Linkage Disequilibrium
Macular Degeneration--genetics
Male
Middle Aged
Mutation, Missense
Penetrance
Polymorphism, Single Nucleotide
Principal Component Analysis
Risk Factors
Sequence Analysis, DNA