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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21.
Kidney Int. 2009.
PMID: 19165178
Free PMC article.
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Sampson JR, Dawson BD, Harris PC; CRISP Consortium.
Consugar MB, et al.
Kidney Int. 2008 Dec;74(11):1468-79. doi: 10.1038/ki.2008.485. Epub 2008 Sep 24.
Kidney Int. 2008.
PMID: 18818683
Free PMC article.
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