Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

S Roosing, LI van den Born, CB (Carel) Hoyng, Alberta Thiadens, E De Baere, RWJ Collin, RK Koenekoop, BP Leroy, N van Moll-Ramirez, H Venselaar, FCC Riemslag, FPM Cremers, Caroline Klaver, AI Hollander

Research output: Contribution to journalArticleAcademicpeer-review

33 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)1239-1246
Number of pages8
JournalOphthalmology
Volume120
Issue number6
DOIs
Publication statusPublished - 2013

Research programs

  • EMC NIHES-01-64-01
  • EMC OR-01-60-01

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