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Updated: Sep 20, 2025

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对21名患有丹特病的中国患者的表型和基因型分析

Ruochen Che1, Yuwen Cai1, Wei Zhou2

  • 1Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.

Journal of biomedical research
|May 27, 2025
PubMed
概括

丹特病是一种罕见的脏疾病,由CLCN5或OCRL基因的突变引起. 这项研究分析了21名中国儿童,在大多数情况下确定了CLCN5变异,并揭示了新的突变,有助于早期诊断.

关键词:
在CLCN5基因.丹特病是一种牙病.这就是OCRL基因.在X染色体中,X染色体不活化.孩子们的孩子们的孩子们的孩子们.低分子量蛋白尿症 蛋白尿症

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