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Polycystic kidney disease 5
- ... JJ, Dixon BP. A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol. 2005 May;20(5):558-66. doi: 10.1007/s00467-004-1665- ... on PubMed Boucher C, Sandford R. Autosomal dominant polycystic kidney ... Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. ...
- ... JJ, Dixon BP. A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol. 2005 May;20(5):558-66. doi: 10.1007/s00467-004-1665- ... on PubMed Boucher C, Sandford R. Autosomal dominant polycystic kidney ... Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. ...
- ... R, Zerres K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004 May;23(5):453-63. doi: 10.1002/humu.20029. Citation ...
- ... on PubMed Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. ...
- ... a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as ... 2; JBTS2 JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; ...
- ... include the PKD1 gene, which is responsible for polycystic kidney disease. A loss of this gene leads to the ... gene cluster. Int J Hematol. 2002 Dec;76(5):420-6. doi: 10.1007/BF02982807. Citation on ...
- ... include the PKD1 gene, which is responsible for polycystic kidney disease. A loss of this gene leads to the ... gene cluster. Int J Hematol. 2002 Dec;76(5):420-6. doi: 10.1007/BF02982807. Citation on ...
- ... facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth ... Am J Med Genet A. 2009 May;149A(5):1089-95. doi: 10.1002/ajmg.a.32799. ...
- ... dominant interstitial kidney disease Autosomal dominant medullary cystic kidney disease Polycystic kidneys, medullary type Genetic Testing Registry: Tubulointerstitial kidney ...
- ... Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779. Citation on PubMed ... 2275-81. doi: 10.1007/s00198-013-2298-5. Epub 2013 Feb 7. Citation on PubMed or ...