Rare variants in the functional domains of complement factor H are associated with age-related macular degeneration

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 11, 2015, Pages 6873-6878

  Triebwasser, Michael P ^a   Roberson, Elisha D O ^a   Yu, Yi ^b   Schramm, Elizabeth C ^a   Wagner, Erin K ^b,c   Raychaudhuri, Soumya ^d,e,f,g   Seddon, Johanna M ^b,c   Atkinson, John P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TUFTS MEDICAL CENTER   (United States)

^c TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Macular degeneration; Rare genetic variants; Sequencing

Indexed keywords

COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR H, HUMAN; STOP CODON;

AGE RELATED MACULAR DEGENERATION; AGED; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; BLOOD; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; MACULAR DEGENERATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

AGED; CODON, NONSENSE; COMPLEMENT FACTOR H; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MACULAR DEGENERATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84945262769     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.15-17432     Document Type: Article

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