PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

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.

Local TagsRelease HistoryDetailsSummary

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Bergmann, C., Senderek, J., Küpper, F., Schneider, F., Dornia, C., Windelen, E., et al. (2004). PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human Mutation, 23(5), 453-463.

Item is Released

show all hide all

Basic

show hide

Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-6A3A-E Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-6A3B-C

Genre: Journal Article

Alternative Title : Hum. Mutat.

Files

show Files

Locators

show

Creators

show

hide

Creators:
Bergmann, C., Author
Senderek, J., Author
Küpper, F., Author
Schneider, F., Author
Dornia, C., Author
Windelen, E., Author
Eggermann, T., Author
Rudnik-Schöneborn, S., Author
Kirfel, J., Author
Furu, L., Author
Onuchic, L. E., Author
Rossetti, S., Author
Harris, P. C., Author
Somlo, S., Author
Guay-Woodford, L., Author
Germino, G. G., Author
Moser, M.¹, Author
Büttner, R., Author
Zerres, K., Author

Affiliations:
1Fässler, Reinhard / Molecular Medicine, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565147

Content

show

hide

Free keywords: autosomal recessive polycystic kidney disease; ARPKD; polycystic kidney and hepatic disease 1; PKHD 1; fibrocystin; polyductin; review; mutation analysis; genotype-phenotype; cilia

Abstract: -

Details

show

hide

Language(s): eng - English

Dates: Date issued: 2004

Publication Status: Issued

Pages: -

Publishing info: -

Table of Contents: -

Rev. Type: Peer

Identifiers: eDoc: 221575
ISI: 000221119500008

Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show

hide

Title: Human Mutation

Alternative Title : Hum. Mutat.

Source Genre: Journal

Creator(s):

Affiliations:

Publ. Info: -

Pages: - Volume / Issue: 23 (5) Sequence Number: - Start / End Page: 453 - 463 Identifier: ISSN: 1059-7794