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

Nature Genetics

Volumn 43, Issue 12, 2011, Pages 1232-1236

  Raychaudhuri, Soumya ^a,b,c   Iartchouk, Oleg ^b   Chin, Kimberly ^d   Tan, Perciliz L ^e   Tai, Albert K ^f   Ripke, Stephan ^c,g   Gowrisankar, Sivakumar ^b   Vemuri, Soumya ^b   Montgomery, Kate ^b   Yu, Yi ^d   Reynolds, Robyn ^d   Zack, Donald J ^h   Campochiaro, Betsy ^h   Campochiaro, Peter ^h   Katsanis, Nicholas ^e   Daly, Mark J ^c,g   Seddon, Johanna M ^d,f  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

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

^d TUFTS MEDICAL CENTER   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

AGING; ALLELE; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HEMOLYTIC UREMIC SYNDROME; HUMAN; KIDNEY DISEASE; KIDNEY FUNCTION; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; COMPLEMENT FACTOR H; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LINKAGE DISEQUILIBRIUM; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION, MISSENSE; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRINCIPAL COMPONENT ANALYSIS; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 82255162545     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.976     Document Type: Article

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