Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Susanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, Alberta A H J Thiadens, Elfride de Baere, Rob W J Collin, Robert K Koenekoop, Bart P Leroy, Norka van Moll-Ramirez, Hanka Venselaar, Frans C C Riemslag, Frans P M Cremers, Caroline C W Klaver, Anneke I den Hollander

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology