Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Methods Whole exo...

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Detalles Bibliográficos
Autores principales: Gao, Xue, Yuan, Yong-Yi, Lin, Qiong-Fen, Xu, Jin-Cao, Wang, Wei-Qian, Qiao, Yue-Hua, Kang, Dong-Yang, Bai, Dan, Xin, Feng, Huang, Sha-Sha, Qiu, Shi-Wei, Guan, Li-Ping, Su, Yu, Wang, Guo-Jian, Han, Ming-Yu, Jiang, Yi, Liu, Han-Kui, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931241/
https://www.ncbi.nlm.nih.gov/pubmed/29453195
http://dx.doi.org/10.1136/jmedgenet-2017-104954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931241/
https://www.ncbi.nlm.nih.gov/pubmed/29453195
http://dx.doi.org/10.1136/jmedgenet-2017-104954

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