The ALPL gene variant project: results of the first 100 reclassified variants.

• Tác giả: Francesca Barbazza, Kathryn Dahir, Guillermo Del Angel, Jessica Ebner-Jahn, Ahmed El-Gazzar, Mariam R Farman, Florian Högler, Wolfgang Högler, Erin Huggins, Priya S Kishnani, Agnès Linglart, Theodora Malli, Gabriel Á Martos-Moreno, Erica B Nading, Keiichi Ozono, Catherine Rehder, Cheryl Rockman-Greenberg, Eric T Rush, Lothar Seefried, Sara Shojaei, Josephine T Tauer, Gerald Webersinke
• Ngôn ngữ: eng
• Ký hiệu phân loại: 572.865 +Gene expression
• Thông tin xuất bản: England : JBMR plus , 2025
• Bộ sưu tập: NCBI
• ID: 748299

Tóm tắt

Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (