Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Polycystic liver disease 2

Polycystic liver disease 2 is an autosomal dominant disorder caused by mutations of the SEC63 gene.

Systematic

Polycystic liver disease
LRP5
Polycystic liver disease 1
Polycystic liver disease 2
SEC63

References:

1.

Davila S et al. (2004) Mutations in SEC63 cause autosomal dominant polycystic liver disease.

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2.

Pirson Y et al. (1996) Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2.

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3.

OMIM.ORG article

Omim 617004 [^]
Update: April 29, 2019