Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

Susanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, Sandro Banfi, Robert K Koenekoop, Marijke N Zonneveld-Vrieling, Caroline C W Klaver, Janneke J C van Lith-Verhoeven, Frans P M Cremers, Anneke I den Hollander, Carel B Hoyng

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Biochemistry, Genetics and Molecular Biology