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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2023. (Total: 223688Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Retinal Dystrophies and RDS[original query]
Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
Japanese journal of ophthalmology 2001 45 (4): 355-8.
Hayasaka S, Matsumoto M, Yamada T, Zhang XY, Hayasaka Y
Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6.
Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Molecular vision 2007 13 1031-7.
Gamundi María José, Hernan Imma, Muntanyola Marta, Trujillo María José, García-Sandoval Blanca, Ayuso Carmen, Baiget Montserrat, Carballo Migu
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Molecular genetics & genomic medicine 2019 11 8 (1): .
Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar
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