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

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

Abstract 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 characte...

Full description

Bibliographic Details
Main Authors: Juan C. Zenteno, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar, Josué Ronquillo, Agustín Rodas‐Serrano, Luis Aguilar‐Castul, Rodrigo Matsui, Carlos I. Vencedor‐Meraz, Rocío Arce‐González, Federico Graue‐Wiechers, Mario Gutiérrez‐Paz, Tatiana Urrea‐Victoria, Ulises deDios Cuadras, Oscar F. Chacón‐Camacho
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Leber congenital amaurosis
next‐generation sequencing
retinal dystrophy
retinitis pigmentosa
Online Access:https://doi.org/10.1002/mgg3.1044

Internet

https://doi.org/10.1002/mgg3.1044

Similar Items