GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population

Autor: Cláudia Sousa Reis, Ana Cristina Santos, Carla Pinto Moura, Henrique Barros, Susana Fernandes

Publikováno v: Acta Médica Portuguesa, Vol 34, Iss 9, Pp 592-600 (2021)
Acta Médica Portuguesa; v. 34, n. 9 (2021): Setembro; 592-600
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3509b537a3ae5e0c413d279be5a9e063
https://doi.org/10.20344/amp.13781

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

Autor: Mete Kıroğlu, Osman Demirhan, Süleyman Özdemir, Özgür Tarkan, Özgür Sürmelioğlu, Ülkü Tuncer, Mehmet Bertan Yilmaz, K. Kara, P Sari

Publikováno v: The Journal of Laryngology & Otology. 127:33-37

Objective:Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of theGJB2gene and the del(GJB6-D13S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5a48dbf14dad9d7aacd14a26b439bf
https://doi.org/10.1017/s0022215112002587

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