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Article

A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Apr 2013

Gu Ben J, Baird Paul N, Vessey Kirstan A, Skarratt Kristen K, Fletcher Erica L, Fuller Stephen J, Richardson Andrea J, Guymer Robyn H, Wiley James S

Abstract excerpt

Age-related macular degeneration (AMD) is a leading cause of blindness in Western countries and is diagnosed by the clinical appearance of yellow subretinal deposits called drusen. Genetic changes in immune components are clearly implicated in the pathology of this disease. We have previously shown that the purinergic receptor P2X7 can act as a scavenger receptor, mediating phagocytosis of apoptotic cells and...

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PMID: 23303206
DOI: 10.1096/fj.12-215368

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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