ロード中...

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

ALPL encodes the tissue nonspecific alkaline phosphatase (TNSALP), which removes phosphate groups from various substrates. Its function is essential for bone and tooth mineralization. In humans, ALPL mutations lead to hypophosphatasia, a genetic disorder characterized by defective bone and/or tooth...

詳細記述

保存先:
書誌詳細
主要な著者: Silvent, Jérémie, Gasse, Barbara, Mornet, Etienne, Sire, Jean-Yves
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4148848/
https://ncbi.nlm.nih.gov/pubmed/25023282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.576843
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!