Associated Papers
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R et al.
Gastroenterology, 2024
Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
Janssen MJ et al.
Plos One, 2012
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E et al.
Clinical Genetics, 2010
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Waanders E et al.
Histochemistry and Cell Biology, 2008
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Davila S et al.
Nature Genetics, 2004
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