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泌尿结石与基因关系的研究进展 被引量:9

Progress in Study of Relation Between Urinary Stone and Gene
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作者 沙辛达
出处 《中国临床医学》 2001年第3期305-306,108,共3页 Chinese Journal of Clinical Medicine
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参考文献15

  • 1Ang KS, Mighard JP, Triffard F, et al. Genetic and environmental factors implicated in recurrent calcium lithiasis.Nephrologie. 1993; 14(6): 299~303.
  • 2Rousaud F, Rousaud A. Nunes V, et al. Advancements in the genetics of cystinuria. Ann Urol(Paris), 1995: 29(6~7): 346~350.
  • 3Goodyer P, Saadi Ⅰ, Ong P, et al. Cystinuria subtype and the risk of nephrolithiasis. Kidney Int. 1998 Jul; 54(1): 56~61.
  • 4Calonge MJ, Volpini V, et al. Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to typeI but not type Ⅲ cystinuria. PNAS 92: 1995; 9667~9671.
  • 5Engle SJ, Stockelman MG, Chen J, et al. Adenine phosphorivosyltransferase - deficient mice develop 2, 8 - dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci USA 1993 May 28:93(11): 5307~5312.
  • 6Kamatani N [Adenine phosphoribosyltransferase (APRT) deficiency]. Nippon Rinsho 1996 Dec; 54(12): 3321~3327.
  • 7Bye S, Mallmann R, Duley J, et al. Identification of a 7- basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8 - dihydroxyadenine urolithiasis. Clin Investig 1994Jul: 72(7): 550~553.
  • 8Hidalgo - Laos RI, Kedar , Williams CA, et al. A new point mutation in a hypoxanthine phosphoribosyltransferase - deficient patient. Pediatr Nephrol. 1997 Oct: 11(5): 645~648.
  • 9Obermuller N, Gretz N, Kriz W, et al. The swelling- activated chloride channel ClC- 2, the chloride channel ClC- 3, and ClC -5, a chloride channel mutated in kidney stone disease, are expressed in distinct subpopulations of renal epithelial calls. J Clin Invest 1998 Feb 1; 101(3): 635~642.
  • 10Lloyd SE, Pearce SH, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996 Feb 1; 379(6564): 446~449.

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