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

BACKGROUND: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next‐generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: 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 F.
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2019
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978239/
https://ncbi.nlm.nih.gov/pubmed/31736247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1044
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