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

Internet

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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