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Missence variations in the fibulin 5 gene and age-related macular degeneration

Article Abstract:

Age-related macular degeneration (AMD), the most common cause of irreversible vision loss, is studied and the implication of fibulin genes in the pathogenesis is identified. Missence mutations in the fibulin 5 gene were found in 1.7 percent patients of the 402 patients tested who suffered from AMD.

Author: Sheffield, Val C., Moore, Paula A., Eastman, Christopher G., Casavant, Thomas L., Stone, Edwin, Braun, Terry, Russell, Stephen R., Kuehn, Markus H., Lotery, Andrew J.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2004
Gene mutations, Gene mutation

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Complement C3 variant and the risk of age-related macular degeneration

Article Abstract:

Single-nucleotide polymorphisms (SNPs) spanning the complement genes C3 and C5 are genotyped in subjects with age-related macular degeneration and in control subjects. The results have shown that complement C3 is vital on the pathogenesis of age-related macular degeneration.

Author: Wright, Alan F., Clayton, David G., Deary, Ian J., Bird, Alan C., Moore, Anthony T., Yates, John R.W., Matharu, Baljinder K., Sepp, Tiina, Khan, Jane C., Thurlby, Deborah A., Shahid, Humma, Hayward, Caroline, Morgan, Joanne, Armbrecht, Ana Maria, Dhillon, Baljean, Redmond, Elizabeth
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2007
Single nucleotide polymorphisms

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Age-related macular degeneration and the extracellular matrix

Article Abstract:

Abnormalities of the extracellular matrix of the eye cause irreversible blindness in elderly persons in the West. Mutations in the Fibulin 5 genes are the main cause of these problems in the elderly.

Author: Jhonson, Lincoln V., Anderson, Don H.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2004
Health aspects, Aged, Elderly, Genetic research

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Subjects list: Research, Causes of, Genetic aspects, Macular degeneration
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