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2014 | 1 |
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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Sci Rep. 2018 Nov 20;8(1):17113. doi: 10.1038/s41598-018-35085-0.
Sci Rep. 2018.
PMID: 30459346
Free PMC article.
Non-USH2A mutations in USH2 patients.
Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A, Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF.
Besnard T, et al.
Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6.
Hum Mutat. 2012.
PMID: 22147658
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM.
Aparisi MJ, et al.
Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7.
Orphanet J Rare Dis. 2014.
PMID: 25404053
Free PMC article.
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