Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

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作者： Juan C,Zenteno ^[1] ; Leopoldo A,García-Montaño ^[2] ; Marisa,Cruz-Aguilar ^[1] ; Josué,Ronquillo ^[1] ; Agustín,Rodas-Serrano ^[1] ; Luis,Aguilar-Castul ^[1] ; Rodrigo,Matsui ^[3] ; Carlos I,Vencedor-Meraz ^[4] ; Rocío,Arce-González ^[5] ; Federico,Graue-Wiechers ^[1] ; Mario,Gutiérrez-Paz ^[4] ; Tatiana,Urrea-Victoria ^[4] ; Ulises,de Dios Cuadras ^[4] ; Oscar F,Chacón-Camacho ^[4]

作者单位： Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico. ^[1] Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico. ^[2] AFINES Program, Faculty of Medicine, UNAM, Mexico City, Mexico. ^[3] Department of Retina, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico. ^[4] Vector Borne Disease Program, Secretaría de Salud Pública, Hermosillo, Mexico. ^[5]

关键词 Leber congenital amaurosis next-generation sequencing retinal dystrophy retinitis pigmentosa

主题词 ADP核糖基化因子(ADP-Ribosylation Factors);ATP结合匣式转运子(ATP-Binding Cassette Transporters);细胞外基质蛋白质类(Extracellular Matrix Proteins);眼蛋白质类(Eye Proteins);基因频率(Gene Frequency);遗传异质性(Genetic Heterogeneity);基因型(Genotype);人类(Humans);异柠檬酸脱氢酶(Isocitrate Dehydrogenase);膜蛋白质类(Membrane Proteins);墨西哥(Mexico);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);视网膜营养不良(Retinal Dystrophies);顺反异构酶类(cis-trans-Isomerases)

DOI 10.1002/mgg3.1044

PMID 31736247

发布时间 2021-03-29

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Molecular genetics & genomic medicine

2020年8卷1期

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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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