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An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

Fritsche, Lars G., Lauer, N., Hartmann, Andrea, Stippa, S., Keilhauer, Claudia N., Oppermann, M., Pandey, M. K., Köhl, Jörg, Zipfel, P. F. and Weber, Bernhard H. F. (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Human Molecular Genetics 19, pp. 4694-4704.

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Abstract

A frequent deletion of complement factor H (CFH)-related genes CFHR3 and CFHR1 (ΔCFHR3/CFHR1) is considered to have a protective effect against age-related macular degeneration (AMD), although the underlying mechanism remains elusive. The deletion seems to be linked to one of the two protective CFH haplotypes which are both tagged by the protective allele of single nucleotide polymorphism ...

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Item type:Article
Date:2010
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1093/hmg/ddq399DOI
20843825PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35199
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