Resumo

LOPEZ, Greizy et al. Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals. Nova [online]. 2014, vol.12, n.22, pp.131-136. ISSN 1794-2470.

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.

Palavras-chave : Usher Syndromes; Deaf-Blind Disorders; Sensorineural Hearing Loss; Retinitis Pigmentosa; Mutation; Genetics.

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