Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Polyzystische Lebererkrankung 1

Die polyzystische Lebererkrankung vom Typ 1 ist eine autosomal dominante Erkrankung die durch Mutationen im PRKCSH-Gen hervorgerufen wird.

Gliederung

Polyzystische Lebererkrankung
LRP5
Polyzystische Lebererkrankung 1
PRKCSH
Polyzystische Lebererkrankung 2

Referenzen:

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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