ロード中...

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). TMPRSS3 mutations have been mainly identified in patients from Asian and Mediterranean countries and seem to...

詳細記述

保存先:
書誌詳細
主要な著者: Elbracht, Miriam, Senderek, Jan, Eggermann, Thomas, Thürmer, Christian, Park, Jonas, Westhofen, Martin, Zerres, Klaus
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2752172/
https://ncbi.nlm.nih.gov/pubmed/17551081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049122
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!