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De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.

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Title: De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.
Authors: Zhu J; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Affiliated Second People's Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Xu ZY; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Yu HP; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Wang RL; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Luo YJ; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Xie LJ; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China., Zhang JH; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Chen Q; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Wang PF; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Ruan DD; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Zou J; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China., Zhou YF; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Chen L; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Huang FM; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Gao MZ; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Zhang L; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Li YF; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Fang ZT; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China., Liao LS; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China., Zhang XK; Affiliated Second People's Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China. Electronic address: zhxk1963@aliyun.com., Hu B; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Capital Medical University, Beijing, China. Electronic address: hubin80@126.com., Luo JW; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China. Electronic address: docluo0421@aliyun.com., Zheng ZH; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China. Electronic address: 751422449@qq.com.
Source: Gene [Gene] 2026 Feb 05; Vol. 978, pp. 149902. Date of Electronic Publication: 2025 Nov 14.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.
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  Data: <searchLink fieldCode="AU" term="%22Zhu+J%22">Zhu J</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Affiliated Second People's Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+ZY%22">Xu ZY</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Yu+HP%22">Yu HP</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+RL%22">Wang RL</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Luo+YJ%22">Luo YJ</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xie+LJ%22">Xie LJ</searchLink>; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+JH%22">Zhang JH</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+PF%22">Wang PF</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Ruan+DD%22">Ruan DD</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zou+J%22">Zou J</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhou+YF%22">Zhou YF</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Huang+FM%22">Huang FM</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Gao+MZ%22">Gao MZ</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Li+YF%22">Li YF</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Fang+ZT%22">Fang ZT</searchLink>; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Liao+LS%22">Liao LS</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+XK%22">Zhang XK</searchLink>; Affiliated Second People's Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China. Electronic address: zhxk1963@aliyun.com.<br /><searchLink fieldCode="AU" term="%22Hu+B%22">Hu B</searchLink>; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Capital Medical University, Beijing, China. Electronic address: hubin80@126.com.<br /><searchLink fieldCode="AU" term="%22Luo+JW%22">Luo JW</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China. Electronic address: docluo0421@aliyun.com.<br /><searchLink fieldCode="AU" term="%22Zheng+ZH%22">Zheng ZH</searchLink>; Department of Traditional Chinese Medicine and Nephrology and Neurology, Shengli Clinical Medical College of Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fujian University of Traditional Chinese Medicine, Fuzhou, China; Medical College, Fuzhou University, Fuzhou, China. Electronic address: 751422449@qq.com.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41242437
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