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High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Among authors: de castro miro m. Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185. Invest Ophthalmol Vis Sci. 2011. PMID: 21217109
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
de Castro-Miró M, Tonda R, Escudero-Ferruz P, Andrés R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G, Gonzàlez-Duarte R. de Castro-Miró M, et al. PLoS One. 2016 Dec 22;11(12):e0168966. doi: 10.1371/journal.pone.0168966. eCollection 2016. PLoS One. 2016. PMID: 28005958 Free PMC article.
11 results