Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

scientific article published on December 2005

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.3748/WJG.V11.I48.7690
P932PMC publication ID4727230
P698PubMed publication ID16437702
P5875ResearchGate publication ID292340844

P2093author name stringJoost P H Drenth
Rene H M Te Morsche
Pedro González
Ramón Peces
Carlos Peces
P2860cites workMutations in PRKCSH cause isolated autosomal dominant polycystic liver diseaseQ24531988
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1Q24538950
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver diseaseQ28208353
Mutations in SEC63 cause autosomal dominant polycystic liver diseaseQ28260838
Polycystic disease of the liverQ28283470
DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the diseaseQ33676796
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genesQ33679157
Combined hepatic resection with fenestration for highly symptomatic polycystic liver disease: A report on seven patientsQ36065750
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver diseaseQ43682509
Clinical profile of autosomal dominant polycystic liver diseaseQ44261201
Liver transplantation for polycystic liver disease--indications and outcomeQ44322811
Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.Q47368927
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.Q55067904
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2Q59463047
Autosomal dominant polycystic kidney diseaseQ73302337
Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2Q74578499
[Massive inferior vena cava thrombosis in a patient with autosomal dominant polycystic hepatorenal disease]Q78037348
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish familiesQ78654233
[Polycystic liver disease without autosomal dominant polycystic kidney disease]Q79348063
P433issue48
P407language of work or nameEnglishQ1860
P921main subjectpolycystic liver diseaseQ246002
polycystic kidney diseaseQ60195313
P304page(s)7690-7693
P577publication date2005-12-01
P1433published inWorld Journal of GastroenterologyQ15708885
P1476titleAutosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation
P478volume11

Reverse relations

Q30384755Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.cites workP2860

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