ロード中...

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental...

詳細記述

保存先:
書誌詳細
主要な著者: Salin-Cantegrel, Adèle, Rivière, Jean-Baptiste, Shekarabi, Masoud, Rasheed, Sarah, DaCal, Sandra, Laganière, Janet, Gaudet, Rébecca, Rochefort, Daniel, Lesca, Gaëtan, Gaspar, Claudia, Dion, Patrick A., Lapointe, Jean-Yves, Rouleau, Guy A.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3151088/
https://ncbi.nlm.nih.gov/pubmed/21628467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.226894
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!