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

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Description scientific article published on 15 March 2013
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author: Susanne Roosing  Hanka Venselaar  Elfride De Baere  Robert Koenekoop  Bart Leroy  Caroline C Klaver 

Publication date March 15, 2013
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