Abnormal hepatocystin caused by truncati
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Joost P. H. Drenth; Esa Tahvanainen; Rene H. M. te Morsche; Pia Tahvanainen; Hel
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Article
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2004
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John Wiley and Sons
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English
⚖ 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,