The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

af Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R., Weber, Bernhard H. F.
Udgivet i Biol Open (2019)

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

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Udgivet i J Neuroinflammation (2016)