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Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMD

30 Aug 2016

Abstract excerpt

The genetic architecture of age-related macular degeneration (AMD) involves numerous genetic variants, both common and rare, in the coding region of complement factor H (CFH). While these variants explain high disease burden in some families, they fail to explain the pathology in all. We selected families whose AMD was unexplained by known variants and performed whole exome sequencing to probe for other rare,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27572114
DOI: 10.1038/srep31531

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Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMDPMID 27572114Read ↗

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