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Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease

INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder. The PKD1 gene is responsible for the majority of ADPKD cases, and the mutations in this gene exhibit high genetic diversity. This study aimed to investigate the association between genotype and phenotype...

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Detalles Bibliográficos
Autores principales:	Zhuang, Jing, Aierken, Ailima, Yalikun, Dilina, Zhang, Jun, Wang, Xiaoqin, Ren, Yongfang, Tian, Xuefei, Jiang, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600478/ https://www.ncbi.nlm.nih.gov/pubmed/37901409 http://dx.doi.org/10.3389/fmed.2023.1268307

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