TY - NEWS
TI - Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial
AU - Greizy López
AU - Nancy Yaneth Gelvez
AU - Luisa Fernanda Urrego
AU - Silvia Florez
AU - David Medina
AU - Vicente Rodríguez
AU - Marta Lucía Tamayo
AB - Objective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom­bia suffering from RP and sensorineural deafness. Materials and methods:Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject.
DA - 2015-12-31
PB - Universidad Colegio Mayor de Cundinamarca
UR - https://repositorio.unicolmayor.edu.co/handle/unicolmayor/4370
ER -