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Title:

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Fisher, SA; Rivera, A; Fritsche, LG; Keilhauer, CN; Lichtner, P; Meitinger, T; Rudolph, G; Weber, BH
Abstract:
This article reports a well-powered age-related macular degeneration (AMD) case-control association study in the HMCN1 gene, showing that common variants do not account for a substantial proportion of AMD cases. Thus, the consistent linkage peak observed by several genome-wide linkage scans within the 1q32 region is unlikely to be attributed to polymorphisms at the HMCN1 locus. In addition, the analysis provides comprehensive data suggesting that low-frequency variants encoding possible function...     »
Journal title abbreviation:
Hum Mutat
Year:
2007
Journal volume:
28
Journal issue:
4
Pages contribution:
406-13
Language:
eng
Fulltext / DOI:
doi:10.1002/humu.20464
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17216616
Print-ISSN:
1059-7794
TUM Institution:
Institut für Humangenetik
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