ロード中...

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafne...

詳細記述

保存先:
書誌詳細
出版年:Genes (Basel)
主要な著者: Tona, Risa, Lopez, Ivan A., Fenollar-Ferrer, Cristina, Faridi, Rabia, Anselmi, Claudio, Khan, Asma A., Shahzad, Mohsin, Morell, Robert J., Gu, Shoujun, Hoa, Michael, Dong, Lijin, Ishiyama, Akira, Belyantseva, Inna A., Riazuddin, Sheikh, Friedman, Thomas B.
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7598720/
https://ncbi.nlm.nih.gov/pubmed/32987832
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11101122
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!