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Basal laminar drusen caused by compound heterozygous variants in the CFH gene

Authors :
Boon, Camiel J.F.
Klevering, B. Jeroen
Hoyng, Carel B.
Zonneveld-Vrieling, Marijke N.
Nabuurs, Sander B.
Blokland, Ellen
Cremers, Frans P.M.
Den Hollander, Anneke I.
Source :
American Journal of Human Genetics. Feb, 2008, Vol. 82 Issue 2, p516, 8 p.
Publication Year :
2008

Abstract

The impact of the complement factor H (CFH) gene in different families with early-onset drusen and identified nonsense and missense variants is discussed. The results show that the CFH heterozygous variants lead to basal laminar drusen in young adults, resulting in the loss of vision in the later stages of their lives.

Details

Language :
English
ISSN :
00029297
Volume :
82
Issue :
2
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.176464374