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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) |
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| Authors: | Bergmann Carsten Senderek Jan Küpper Fabian Schneider Frank Dornia Christian Windelen Ellen Eggermann Thomas Rudnik-Schöneborn Sabine Kirfel Jutta Furu Laszlo Onuchic Luiz F Rossetti Sandro Harris Peter C Somlo Stefan Guay-Woodford Lisa Germino Gregory G Moser Markus Büttner Reinhard Zerres Klaus |
| Affiliation: | Department of Human Genetics, Aachen University, Aachen, Germany. cbergmann@ukaachen.de |
| Abstract: | |
| Keywords: | autosomal recessive polycystic kidney disease ARPKD polycystic kidney and hepatic disease 1 PKHD1 fibrocystin polyductin review mutation analysis genotype–phenotype cilia |
| 本文献已被 PubMed 等数据库收录！ | |