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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Boldt K, et al. Among authors: nishina pm. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606596 Free PMC article.
PCR assay for a polymorphic PvuII site in the LPL gene.
Johnson JP, Nishina PM, Naggert JK. Johnson JP, et al. Among authors: nishina pm. Nucleic Acids Res. 1990 Dec 25;18(24):7469. doi: 10.1093/nar/18.24.7469. Nucleic Acids Res. 1990. PMID: 1979679 Free PMC article.
128 results