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Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease |
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| Authors: | Carsten Bergmann Valeska Frank Fabian Küpper Christa Schmidt Jan Senderek Klaus Zerres |
| Institution: | (1) Department of Human Genetics, Aachen University, Pauwelsstrasse 30, 52074 Aachen, Germany |
| Abstract: | |
| Keywords: | Autosomal recessive polycystic kidney disease Polycystic kidney and hepatic disease 1 Polyductin/fibrocystin Splicing Splice mutation Minigene Exon skipping |
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