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          Institute: MPI für Biochemie     Collection: Molecular Medicine (R. Fässler)     Display Documents



  history
ID: 221575.0, MPI für Biochemie / Molecular Medicine (R. Fässler)
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
Authors:Bergmann, C.; Senderek, J.; Küpper, F.; Schneider, F.; Dornia, C.; Windelen, E.; Eggermann, T.; Rudnik-Schöneborn, S.; Kirfel, J.; Furu, L.; Onuchic, L. E.; Rossetti, S.; Harris, P. C.; Somlo, S.; Guay-Woodford, L.; Germino, G. G.; Moser, M.; Büttner, R.; Zerres, K.
Language:English
Date of Publication (YYYY-MM-DD):2004
Title of Journal:Human Mutation
Journal Abbrev.:Hum. Mutat.
Volume:23
Issue / Number:5
Start Page:453
End Page:463
Review Status:Peer-review
Audience:Not Specified
Free Keywords:autosomal recessive polycystic kidney disease; ARPKD; polycystic kidney and hepatic disease 1; PKHD 1; fibrocystin; polyductin; review; mutation analysis; genotype-phenotype; cilia
External Publication Status:published
Document Type:Article
Affiliations:MPI für Biochemie/Molecular Medicine (R. Fässler)/Research Group Moser
External Affiliations:Univ Aachen, Dept Human Genet, D-52074 Aachen, Germany.; Univ Bonn, Dept Pathol, D-5300 Bonn, Germany.; Yale Univ, New Haven, CT 06520 USA.; Johns Hopkins Univ, Baltimore, MD 21218 USA.; Univ Sao Paulo, BR-05508 Sao Paulo, Brazil.; Mayo Clin, Div Nephrol, Rochester, MN USA.; Univ Alabama, Birmingham, AL USA.
Identifiers:ISI:000221119500008 [ID No:1]
ISSN:1059-7794 [ID No:2]
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