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Polycystic kidney disease 7
- ... Breuning M, Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9;353(9147):103-7. doi: 10.1016/s0140-6736(98)03495-3. ...
- ... of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes ... kidney disease associated with glutaric aciduria type II: an inborn ...
- ... a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as ... 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 JOUBERT SYNDROME 20; ...
- ... include the PKD1 gene, which is responsible for polycystic kidney disease. A loss of this gene leads to the ... thalassaemias. Cell Mol Life Sci. 2009 Apr;66(7):1154-62. doi: 10.1007/s00018-008-8529- ...
- ... include the PKD1 gene, which is responsible for polycystic kidney disease. A loss of this gene leads to the ... thalassaemias. Cell Mol Life Sci. 2009 Apr;66(7):1154-62. doi: 10.1007/s00018-008-8529- ...
- ... facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth ... 51. doi: 10.1016/S0072-9752(07)87018-7. No abstract available. Citation on PubMed Thauvin-Robinet ...
- ... dominant interstitial kidney disease Autosomal dominant medullary cystic kidney disease Polycystic kidneys, medullary type Genetic Testing Registry: Tubulointerstitial kidney ...
- ... kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 2018 Oct 30;19(1):301. ... J Kidney Dis. 2005 Jul;46(1):52-7. doi: 10.1053/j.ajkd.2005.04.003. ...
- ... syndrome. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep ... 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Erratum In: Am J Med Genet A. 2013 ...
- ... glycogen storage disease. Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Citation ...