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  1. No Access

    Article

    A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

    Patrick Sulem, Kari Stefansson and colleagues report the identification of a rare nonsynonymous variant in the C3 gene, encoding complement factor 3, that is associated with age-related macular degeneration.

    Hannes Helgason, Patrick Sulem, Maheswara R Duvvari, Hongrong Luo… in Nature Genetics (2013)

  2. No Access

    Article

    A functional variant in the CFI gene confers a high risk of age-related macular degeneration

    Johannes van de Ven and colleagues report a rare missense mutation in CFI encoding a p.Gly119Arg substitution that confers a high risk of AMD. Sera from AMD cases carrying the p.Gly119Arg variant mediate the degr...

    Johannes P H van de Ven, Sara C Nilsson, Perciliz L Tan… in Nature Genetics (2013)

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    Article

    A homozygous mutation in LTBP2 causes isolated microspherophakia

    Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal ...

    Arun Kumar, Maheswara R. Duvvari, Venkatesh C. Prabhakaran… in Human Genetics (2010)