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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.

DOI:10.1016/j.gendis.2024.101318
PMID:39634134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11614792/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a06d/11614792/86cab5e2826e/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a06d/11614792/86cab5e2826e/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a06d/11614792/86cab5e2826e/gr1.jpg

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本文引用的文献

1
Bone characteristics of autosomal dominant hypophosphatemic rickets patients.常染色体显性低磷性佝偻病患者的骨骼特征
Bone. 2023 Feb;167:116602. doi: 10.1016/j.bone.2022.116602. Epub 2022 Nov 5.
2
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.评估 SLC34A3-Ser192Leu 的致病性，该变异是欧洲常见的肾脏磷丢失疾病的错义变异。
Urolithiasis. 2019 Dec;47(6):511-519. doi: 10.1007/s00240-019-01116-2. Epub 2019 Feb 23.
3
Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.
维生素D：代谢、作用的分子机制及多效性作用
Physiol Rev. 2016 Jan;96(1):365-408. doi: 10.1152/physrev.00014.2015.
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[Autosomal dominant hypophosphatemic rickets].
Nihon Rinsho. 2006 Jun 28;Suppl 2:116-9.
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Hereditary hypophosphatemic rickets with hypercalciuria.
N Engl J Med. 1985 Mar 7;312(10):611-7. doi: 10.1056/NEJM198503073121003.