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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.
Date of Publication (YYYY-MM-DD): 2004
Title of Journal: Human Mutation
Volume: 23
Issue / Number: 5
Start Page: 453
End Page: 463
Document Type: Article
ID: 221575.0


Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
Authors: Bergmann, C.; Senderek, J.; Sedlacek, B.; Pegiazoglou, I.; Puglia, P.; Eggermann, T.; Rudnik-Schoneborn, S.; Furu, L.; Onuchic, L. F.; De Baca, M.; Germino, G. G.; Guay-Woodford, L.; Somlo, S.; Moser, M.; Buttner, R.; Zerres, K.
Date of Publication (YYYY-MM-DD): 2003-01
Title of Journal: Journal of the American Society of Nephrology
Volume: 14
Issue / Number: 1
Start Page: 76
End Page: 89
Document Type: Article
ID: 35334.0


Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
Authors: Nagasawa, Y.; Matthiesen, S.; Onuchic, L. F.; Hou, X. Y.; Bergmann, C.; Esquivel, E.; Senderek, J.; Ren, Z. Y.; Zeltner, R.; Furu, L.; Avner, E.; Moser, M.; Somlo, S.; Guay-Woodford, L.; Buttner, R.; Zerres, K.; Germino, G. G.
Date of Publication (YYYY-MM-DD): 2002-09
Title of Journal: Journal of the American Society of Nephrology
Volume: 13
Issue / Number: 9
Start Page: 2246
End Page: 2258
Document Type: Article
ID: 41644.0