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Dent Disease with mutations in OCRL1.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: scheinman sj. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.
Evidence for genetic heterogeneity in Dent's disease.
Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ. Hoopes RR Jr, et al. Among authors: scheinman sj. Kidney Int. 2004 May;65(5):1615-20. doi: 10.1111/j.1523-1755.2004.00571.x. Kidney Int. 2004. PMID: 15086899 Free article.
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. Shrimpton AE, et al. Among authors: scheinman sj. Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18. Nephron Physiol. 2009. PMID: 19390221
A Pst I restriction fragment length polymorphism near the MAO locus on Xp.
Salenger PV, Hueber P, Speller PJ, Van Duijnhoven G, Hoopes RR Jr, Thakker RV, Berger W, Scheinman SJ. Salenger PV, et al. Among authors: scheinman sj. Ann Hum Genet. 1996 Sep;60(5):437. doi: 10.1111/j.1469-1809.1996.tb00441.x. Ann Hum Genet. 1996. PMID: 8912796 Free article. No abstract available.
64 results