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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Med Rep
Egile Nagusiak: Wang, Jin, Qi, Dandan, Yang, Jialiang, Zhang, Dingding, Wang, Qingwei, Ju, Xueming, Zhong, Xiang
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: D.A. Spandidos 2019
Gaiak:
Sarrera elektronikoa: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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