Rare complement factor H variant associated with age-related macular degeneration in the Amish

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 7, 2014, Pages 4455-4460

  Hoffman, Joshua D ^a   Cooke Bailey, Jessica N ^b   D'Aoust, Laura ^a   Cade, William ^c   Ayala Haedo, Juan ^c   Fuzzell, Denise ^b   Laux, Renee ^b   Adams, Larry D ^c   Reinhart Mercer, Lori ^c   Caywood, Laura ^c   Whitehead Gay, Patrice ^c   Agarwal, Anita ^a   Wang, Gaofeng ^c   Scott, William K ^c   Pericak Vance, Margaret A ^c   Haines, Jonathan L ^a,b  

^a VANDERBILT UNIVERSITY   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Age related macular degeneration; Exome sequencing; Linkage analysis; Rare variant; Risk score analysis

Indexed keywords

COMPLEMENT FACTOR H;

AGED; AMISH; ARMS2 GENE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXOME; FEMALE; FOLLOW UP; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HTRA1 GENE; HUMAN; MALE; PEDIGREE ANALYSIS; PREDICTIVE VALUE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SCORING SYSTEM; SELF REPORT;

AGE-RELATED MACULAR DEGENERATION; EXOME SEQUENCING; LINKAGE ANALYSIS; RARE VARIANT; RISK SCORE ANALYSIS;

AGED; AGED, 80 AND OVER; AMISH; COMPLEMENT FACTOR H; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENOTYPE; HUMANS; INDIANA; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION, MISSENSE; OHIO; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84904658762     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13684     Document Type: Article

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