Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease

scientific article published on 14 March 2012

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1051847442
P356DOI10.1007/S00467-012-2137-5
P698PubMed publication ID22415584

P2093author name stringCarsten Bergmann
Joost P H Drenth
Silvia Azzarello-Burri
Thomas J Neuhaus
Andrea Zingg-Schenk
Jürg Caduff
P2860cites workGermline mutations in PRKCSH are associated with autosomal dominant polycystic liver diseaseQ28208353
Mutations in SEC63 cause autosomal dominant polycystic liver diseaseQ28260838
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formationQ28590393
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.Q30384755
Polycystic liver disease is a disorder of cotranslational protein processing.Q36009020
Polycystic liver and kidney diseasesQ36336546
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney diseaseQ36788898
Fibropolycystic liver disease in childrenQ37350849
Clinical profile of autosomal dominant polycystic liver diseaseQ44261201
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Q57908853
Abdominal sonographic study of autosomal dominant polycystic kidney diseaseQ63434636
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver diseaseQ79887081
P433issue7
P921main subjectpolycystic liver diseaseQ246002
autosomal recessive polycystic kidneyQ3395618
P304page(s)1197-1200
P577publication date2012-03-14
P1433published inPediatric NephrologyQ15749796
P1476titleBoy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease
P478volume27