๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A germline mutation in hepatocystin underlies autosomal dominant polycystic liver disease

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

Book ID
119426995
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
174 KB
Volume
124
Category
Article
ISSN
0016-5085

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Abnormal hepatocystin caused by truncati
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease
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,