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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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書目詳細資料
發表在:Mol Med Rep
Main Authors: Wang, Jin, Qi, Dandan, Yang, Jialiang, Zhang, Dingding, Wang, Qingwei, Ju, Xueming, Zhong, Xiang
格式: Artigo
語言:Inglês
出版: D.A. Spandidos 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6854546/
https://ncbi.nlm.nih.gov/pubmed/31638247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10738
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