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Isolated polycystic liver disease genes define effectors of polycystin-1 function

Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of...

詳細記述

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書誌詳細
出版年:J Clin Invest
主要な著者: Besse, Whitney, Dong, Ke, Choi, Jungmin, Punia, Sohan, Fedeles, Sorin V., Choi, Murim, Gallagher, Anna-Rachel, Huang, Emily B., Gulati, Ashima, Knight, James, Mane, Shrikant, Tahvanainen, Esa, Tahvanainen, Pia, Sanna-Cherchi, Simone, Lifton, Richard P., Watnick, Terry, Pei, York P., Torres, Vicente E., Somlo, Stefan
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409105/
https://ncbi.nlm.nih.gov/pubmed/28375157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90129
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