ロード中...

The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects

The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading to overcontractio...

詳細記述

保存先:
書誌詳細
出版年:J Biol Chem
主要な著者: Walklate, Jonathan, Vera, Carlos, Bloemink, Marieke J., Geeves, Michael A., Leinwand, Leslie
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4858979/
https://ncbi.nlm.nih.gov/pubmed/26945064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.707489
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!