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A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD). This study aimed to identify the genetic causes in a Chinese pedigree with ARPKD and design a minigene construct of the PKHD1 gene to investigate...

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Detalles Bibliográficos
Autores principales:	Miao, Mingzhu, Feng, Liqun, Wang, Jue, Xu, Cheng, Su, Xiaotian, Zhang, Guoying, Lu, Shoulian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339289/ https://www.ncbi.nlm.nih.gov/pubmed/37456659 http://dx.doi.org/10.3389/fgene.2023.1207772

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