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Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millán JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D. Hateboer N, et al. Among authors: breuning mh. Kidney Int. 2000 Apr;57(4):1444-51. doi: 10.1046/j.1523-1755.2000.00989.x. Kidney Int. 2000. PMID: 10760080 Free article.
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ. Veldhuisen B, et al. Among authors: breuning mh. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 Free PMC article.
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S. Mochizuki T, et al. Among authors: breuning mh. Science. 1996 May 31;272(5266):1339-42. doi: 10.1126/science.272.5266.1339. Science. 1996. PMID: 8650545
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. Reynolds DM, et al. Among authors: breuning mh. J Am Soc Nephrol. 1999 Nov;10(11):2342-51. doi: 10.1681/ASN.V10112342. J Am Soc Nephrol. 1999. PMID: 10541293
309 results