Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.

Kim, Ye-Ri; Kim, Hye-Min; Lee, Byeonghyeon; Baek, Jeong-In; Lee, Kyu-Yup; Park, Hong-Joon; Kim, Un-Kyung

Kim, Ye-Ri; Kim, Hye-Min; Lee, Byeonghyeon; Baek, Jeong-In; Lee, Kyu-Yup; Park, Hong-Joon; Kim, Un-Kyung.

Afiliação

Kim YR; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea.
Kim HM; Advanced Bio-Resource Research Center, Kyungpook National University, Daegu, Republic of Korea.
Lee B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea.
Baek JI; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
Lee KY; New Drug Development Center, Daegu-Gyeongbuk Medical Innovation Foundation, Daegu, Republic of Korea.
Park HJ; Department of Companion Animal Health, College of Rehabilitation and Health, Deagu Haany University, Gyeongsan, Republic of Korea.
Kim UK; Department of Internal Medicine, Research Institute of Aging and Metabolism, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.

Genes Genomics ; 45(2): 225-230, 2023 Feb.

Article em En | MEDLINE | ID: mdl-36630074

Assuntos

Surdez; Perda Auditiva; Humanos; Mutação de Sentido Incorreto; Perda Auditiva/genética; Surdez/genética; República da Coreia

Palavras-chave

DFNA11; Hearing loss; MYO7A; Missense mutation; Next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Genes Genomics Ano de publicação: 2023 Tipo de documento: Article

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