A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2, identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively. Methods: In this study, the mutation analysis of polycystic kidney...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer – Medknow Publications
2024-04-01
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| Series: | Singapore Medical Journal |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.11622/smedj.2021162 |
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