Isolated polycystic liver disease genes define effectors of polycystin-1 function
Isolated polycystic liver disease genes define effectors of polycystin-1 function
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Author / Creator
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 and Somlo, Stefan
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publisher
United States: American Society for Clinical Investigation
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Scope and Contents
Contents
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 PCLD index cases. Here, we have used whole exome s...
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Full title
Isolated polycystic liver disease genes define effectors of polycystin-1 function
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5409105
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5409105
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI90129
