Die polyzystische Nierenerkrankung 5 ist eine autosomal rezessive polyzystische Nierendegeneration, die durch Mutationen im PKHD1-Gen ausgelöst wird.
Autosomal rezessive polyzystische Nieren und Lebererkrankung | ||||
Polyzystische Nierenerkrankung 4 | ||||
PKHD1 | ||||
Polyzystische Nierenerkrankung 5 | ||||
1. |
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Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. |
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Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). |
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None (2002) Another cystic mystery solved. |
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Wang S et al. (2004) The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. |
9. |
Zhang MZ et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. |
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Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). |
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14. |
OMIM.ORG article Omim 263200 |