Article
GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.
Acta medica portuguesa - 31 Aug 2021
Reis Cláudia Sousa, Santos Ana Cristina, Barros Henrique, Fernandes Susana, Moura Carla Pinto
Abstract excerpt
INTRODUCTION: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. MATERIAL AND METHODS: In order to select the less common GJB2 variants,...
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