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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt, Karsten; Mans, Dorus A; Won, Jungyeon; van Reeuwijk, Jeroen; Vogt, Andreas; Kinkl, Norbert; Letteboer, Stef J F; Hicks, Wanda L; Hurd, Ron E; Naggert, Jürgen K; Texier, Yves; den Hollander, Anneke I; Koenekoop, Robert K; Bennett, Jean; Cremers, Frans P M; Gloeckner, Christian J; Nishina, Patsy M; Roepman, Ronald; Ueffing, Marius.
Affiliation
  • Boldt K; Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen, Germany.
J Clin Invest ; 121(6): 2169-80, 2011 Jun.
Article in En | MEDLINE | ID: mdl-21606596
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Transport / Eye Proteins / Photoreceptor Connecting Cilium / Leber Congenital Amaurosis / Microtubule-Associated Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: J Clin Invest Year: 2011 Document type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Transport / Eye Proteins / Photoreceptor Connecting Cilium / Leber Congenital Amaurosis / Microtubule-Associated Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: J Clin Invest Year: 2011 Document type: Article Affiliation country: Germany