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Læknablaðið - 15.01.1999, Side 48

Læknablaðið - 15.01.1999, Side 48
42 LÆKNABLAÐIÐ 1999; 85 15. Peral B, Gamble V, San Millan JL, Strong C, Sloane- Stanley J, Moreno F, et al. Splicing mutations of the poly- cystic kidney disease 1 (PKDl) gene induced by intronic deletion. Hum Mol Genet 1995; 4: 569-74. 16. Peral B, San Millan J, Ong A, Gamble V, Ward C, Strong C, et al. Screening the 3' region of the polycystic kidney dis- ease 1 (PKDl) gene reveals 6 novel mutations. Am J Hum Genet 1996; 58: 86-96. 17. Peral B, Gamble V, Strong C, Ong A, Sloane-Stanley J, Zerres K, et al. Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKDl) gene by a novel approach. Am J Hum Genet 1997; 60: 1399-410. 18. Watnick T, Piontek K, Cordal T, Weber H, Gandolph M, Qian F, et al. An unusual pattem of mutations in the dupli- cated portion of PKDl is revealed by use of a novel strategy for mutation detection. Hum Mol Genet 1997; 6: 1473-81. 19. Veldhuisen B, Saris J, de Haij S, Hayashi T, Reynolds D, Mochizuki T, et al. 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The mouse homologoue of the polycystic kidney disease gene (Pkdl) is a single-copy gene. Genomics 1996 1996; 34: 233-5. 51. Lu W, Peissel B, Babakhanlou H, Pavlova A, Geng L, Fan X, et al. Perinatal lethality with kidneys and pancreas de- fects in mice with a targeted Pkdl mutation. Nature Genet 1997; 17: 179-81. 52. Parfrey PS, Bear JC, Morgan J. The diagnosis and progno- sis of autosomal dominant polycystic kidney disease. N Engl J Med 1990; 323: 1085-90. 53. Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RJ, Friend K, et al. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1992; 340: 1330-3. 54. Coto E, Sanz de Castro S, Aguado S, Alvarez J, Arias M, Menendez MJ, et al. DNA microsatellite analysis of fami- lies with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. J Med Genet 1995; 32: 442-5.
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