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Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

โœ Scribed by Drenth, Joost P.H.; te Morsche, Rene H.M.; Smink, Renate; Bonifacino, Juan S.; Jansen, Jan B.M.J.


Book ID
109918389
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
326 KB
Volume
33
Category
Article
ISSN
1061-4036

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Abnormal hepatocystin caused by truncati
โœ Joost P. H. Drenth; Esa Tahvanainen; Rene H. M. te Morsche; Pia Tahvanainen; Hel ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 294 KB

Mutations in protein kinase C substrate 80K-H (PRKCSH), encoding for the protein hepatocystin, cause autosomal dominant polycystic liver disease (PCLD), which is clinically characterized by the presence of multiple liver cysts. PCLD has been documented in families from Europe (Netherlands, Belgium,