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Items: 6


A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM.

Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976.


Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis.

Wu M, Guo Y, Ma Y, Zheng Z, Wang Q, Zhou X.

Ophthalmic Res. 2016;55(3):135-44. doi: 10.1159/000442257. Epub 2016 Jan 5. Review.


Age-related macular degeneration: genetics and biology coming together.

Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A.

Annu Rev Genomics Hum Genet. 2014;15:151-71. doi: 10.1146/annurev-genom-090413-025610. Epub 2014 Apr 16. Review.


Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration.

Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, Magnusson K, Zhang K, Attia J.

Hum Mol Genet. 2006 Sep 15;15(18):2784-90. Epub 2006 Aug 11. Review.


[Update on the genetics of age-related macular degeneration].

Fajnkuchen F, Cohen SY.

J Fr Ophtalmol. 2008 Jun;31(6 Pt 1):630-7. Review. French.


Highly penetrant alleles in age-related macular degeneration.

den Hollander AI, de Jong EK.

Cold Spring Harb Perspect Med. 2014 Nov 6;5(3):a017202. doi: 10.1101/cshperspect.a017202. Review.

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