Newly identified intronic and known pathogenic point mutations in cause hereditary hypophosphatemic rickets with hypercalciuria.
作者信息
Sun Yujing, Liu Yuan, Zhang Xiaoli, Jiang Ling
机构信息
Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, Shandong 250012, China.
出版信息
Genes Dis. 2024 May 7;12(2):101318. doi: 10.1016/j.gendis.2024.101318. eCollection 2025 Mar.
Abstract
摘要
Zotero 插件