Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. To date, only nine variants have been associated in patients whose initial symptoms i...

詳細記述

保存先:
書誌詳細
出版年:Int J Mol Sci
主要な著者: Doll, Julia, Kolb, Susanne, Schnapp, Linda, Rad, Aboulfazl, Rüschendorf, Franz, Khan, Imran, Adli, Abolfazl, Hasanzadeh, Atefeh, Liedtke, Daniel, Knaup, Sabine, Hofrichter, Michaela AH, Müller, Tobias, Dittrich, Marcus, Kong, Il-Keun, Kim, Hyung-Goo, Haaf, Thomas, Vona, Barbara
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2020
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6982189/
https://ncbi.nlm.nih.gov/pubmed/31906439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21010311
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料