Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Polycystic liver disease 1 is an autosomal dominant disorder caused by mutations of the PRKCSH gene.
| 1. |
Reynolds DM et al. (2000) Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. 
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| 2. |
Li A et al. (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
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| 3. |
Drenth JP et al. (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
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| 4. |
Sotaniemi EA et al. (1979) Impairment of drug metabolism in polycystic non-parasitic liver disease.
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| 5. |
Karhunen PJ et al. (1986) Adult polycystic liver and kidney diseases are separate entities.
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| 6. |
Berrebi G et al. (1982) Autosomal dominant polycystic liver disease: a second family.
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| 7. |
Luoma PV et al. (1980) Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease.
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| 8. |
OMIM.ORG article Omim 174050
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