Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

Human Molecular Genetics

Volumn 24, Issue 13, 2015, Pages 3861-3870

  Kavanagh, David ^a   Yu, Yi ^b   Schramm, Elizabeth C ^c   Triebwasser, Michael ^c   Wagner, Erin K ^b   Raychaudhuri, Soumya ^d,e,f,g   Daly, Mark J ^d,e,h   Atkinson, John P ^c   Seddon, Johanna M ^b,i,j  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b TUFTS MEDICAL CENTER   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d LABORATORY FOR MOLECULAR MEDICINE   (United States)

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

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j TUFTS UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR I; FIBRINOGEN; CFI PROTEIN, HUMAN;

ADULT; AGE RELATED MACULAR DEGENERATION; AGED; ALLELE; ARTICLE; COMPARATIVE STUDY; COMPUTER MODEL; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; DOWN REGULATION; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HEAVY CHAIN; HUMAN; LIGHT CHAIN; MAJOR CLINICAL STUDY; MALE; PREDICTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RISK FACTOR; SEX DIFFERENCE; GENETIC VARIATION; GENETICS; MACULAR DEGENERATION; METABOLISM; PATHOLOGY;

COMPLEMENT FACTOR I; FEMALE; FIBRINOGEN; GENETIC VARIATION; HUMANS; MACULAR DEGENERATION; MALE;

EID: 84936802263     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv091     Document Type: Article

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