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Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family

Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary fibrocystic disease that primarily involves the kidneys and hepatobiliary tract. The polycystic kidney and hepatic disease 1 (PKHD1) gene is the only gene implicated in ARPKD. The present study aimed to identify PKHD1 mutations ca...

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Detalles Bibliográficos
Autores principales:	Wang, Jin, Qi, Dandan, Yang, Jialiang, Zhang, Dingding, Wang, Qingwei, Ju, Xueming, Zhong, Xiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2019
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854546/ https://www.ncbi.nlm.nih.gov/pubmed/31638247 http://dx.doi.org/10.3892/mmr.2019.10738

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