ALG9 Mutation Carriers Develop Kidney and Liver Cysts

BACKGROUND: Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by mutations in at least six other genes required for pr...

詳細記述

保存先:
書誌詳細
出版年:J Am Soc Nephrol
主要な著者: Besse, Whitney, Chang, Alex R., Luo, Jonathan Z., Triffo, William J., Moore, Bryn S., Gulati, Ashima, Hartzel, Dustin N., Mane, Shrikant, Torres, Vicente E., Somlo, Stefan, Mirshahi, Tooraj
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Nephrology 2019
主題:
Basic Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6830805/
https://ncbi.nlm.nih.gov/pubmed/31395617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2019030298
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