Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.

Fu, Jiewen; Cheng, Jingliang; Zhou, Qi; Khan, Md Asaduzzaman; Duan, Chengxia; Peng, Jiangzhou; Lv, Hongbin; Fu, Junjiang

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.

Fu, Jiewen; Cheng, Jingliang; Zhou, Qi; Khan, Md Asaduzzaman; Duan, Chengxia; Peng, Jiangzhou; Lv, Hongbin; Fu, Junjiang.

Afiliação

Fu J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Cheng J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Zhou Q; Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Khan MA; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Duan C; Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Peng J; Department of Thoracic Surgery, The Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong 510630, P.R. China.
Lv H; Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.
Fu J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, P.R. ChinaDepartment of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000.

Mol Med Rep ; 22(4): 3464-3472, 2020 Oct.

Article em En | MEDLINE | ID: mdl-32945453

Assuntos

Povo Asiático/genética; Códon sem Sentido; Proteínas da Matriz Extracelular/genética; Análise de Sequência de DNA/métodos; Síndromes de Usher/genética; Adulto; China; Proteínas da Matriz Extracelular/química; Feminino; Heterozigoto; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Linhagem; Fenótipo; Domínios Proteicos; Análise de Sequência de RNA; Regulação para Cima

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas da Matriz Extracelular / Análise de Sequência de DNA / Códon sem Sentido / Povo Asiático / Síndromes de Usher Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Med Rep Ano de publicação: 2020 Tipo de documento: Article

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