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