Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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KeAi Communications Co., Ltd.
2025-03-01
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| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304224001156 |
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| _version_ | 1846107652819517440 |
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| author | Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang |
| author_facet | Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang |
| author_sort | Yujing Sun |
| collection | DOAJ |
| format | Article |
| id | doaj-art-a0d4fc49b0774219bab443a1269b9106 |
| institution | Kabale University |
| issn | 2352-3042 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Genes and Diseases |
| spelling | doaj-art-a0d4fc49b0774219bab443a1269b91062024-12-26T08:56:26ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422025-03-01122101318Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuriaYujing Sun0Yuan Liu1Xiaoli Zhang2Ling Jiang3Department 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, ChinaDepartment 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, ChinaCorresponding author.; 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, ChinaCorresponding author.; 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, Chinahttp://www.sciencedirect.com/science/article/pii/S2352304224001156 |
| spellingShingle | Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria Genes and Diseases |
| title | Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| title_full | Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| title_fullStr | Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| title_full_unstemmed | Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| title_short | Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| title_sort | newly identified intronic and known pathogenic point mutations in slc34a3 npt2c cause hereditary hypophosphatemic rickets with hypercalciuria |
| url | http://www.sciencedirect.com/science/article/pii/S2352304224001156 |
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