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Updated: Feb 28, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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下一代测序定义了一个分子确认的ARPKD核心在更广泛的PKHD1相关疾病谱中

Paloma Lapunzina-Soler1, Amir Shabaka2, Ramón Peces2

  • 1Escuela de Doctorado, Universidad de Navarra, 31009 Pamplona, Spain.

Genes
|February 27, 2026
PubMed
概括

自体递归多囊性病 (ARPKD) 的诊断是通过分析PKHD1变异来改进的. 功能丧失的等位基因负担决定了脏的严重程度,而肝脏疾病是独立于切断等位基因的.

关键词:
卡罗利病是卡罗利病的一种疾病.与PKHD1相关的疾病谱.自体递归多囊性脏疾病.管道板形状形 管道板形状形纤维囊素/多聚杜克丁的使用.造成功能衰竭.

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