A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
- Author
- RAYCHAUDHURI, Soumya1 2 3 4 ; IARTCHOUK, Oleg3 ; REYNOLDS, Robyn5 ; ZACK, Donald J10 ; CAMPOCHIARO, Betsy10 ; CAMPOCHIARO, Peter10 ; KATSANIS, Nicholas6 7 ; DALY, Mark J4 9 ; SEDDON, Johanna M11 5 ; CHIN, Kimberly5 ; TAN, Perciliz L6 7 ; TAI, Albert K8 ; RIPKE, Stephan4 9 ; GOWRISANKAR, Sivakumar3 ; VEMURI, Soumya3 ; MONTGOMERY, Kate3 ; YI YU5
[1] Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, United States
[2] Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Boston, Massachusetts, United States
[3] Partners HealthCare Center for Personalized Genetic Medicine, Boston, Massachusetts, United States
[4] Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States
[5] Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Boston, Massachusetts, United States
[6] Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, North Carolina, United States
[7] Department of Pediatrics, Duke University, Durham, North Carolina, United States
[8] Study Center on the Immunogenetics of Infectious Disease, Department of Pathology, Tufts University School of Medicine, Boston, Massachusetts, United States
[9] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, United States
[10] McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
[11] Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, United States - Source
Nature genetics. 2011, Vol 43, Num 12, pp 1232-1236, 5 p ; ref : 26 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Mutation Risque élevé Dégénérescence maculaire liée à l'âge Pathologie de l'oeil Rétinopathie
- Keyword (en)
- Mutation High risk Age related macular degeneration Eye disease Retinopathy
- Keyword (es)
- Mutación Riesgo alto Degeneración macular relacionada con la edad Ojo patología Retinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25285513
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.976 
https://dx.doi.org/10.1038/ng.976
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