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8. Novel mutations in the duplicated region of PKD1 gene. Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C. Eur J Hum Genet; 2000 May 23; 8(5):353-9. PubMed ID: 10854095 [Abstract] [Full Text] [Related]
15. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C. Hum Mutat; 2012 Aug 23; 33(8):1239-50. PubMed ID: 22508176 [Abstract] [Full Text] [Related]
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17. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S. J Am Soc Nephrol; 1999 Nov 23; 10(11):2342-51. PubMed ID: 10541293 [Abstract] [Full Text] [Related]
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19. [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. Zhang DY, Sun TM, Zhang SZ, Tang B, Dai B, Zhang WL, Mei CL. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun 23; 21(3):211-4. PubMed ID: 15192819 [Abstract] [Full Text] [Related]
20. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC. Eur J Hum Genet; 2001 Sep 23; 9(9):677-84. PubMed ID: 11571556 [Abstract] [Full Text] [Related] Page: [Next] [New Search]