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1例石骨症的诊断 被引量:1

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出处 《中国实验诊断学》 2000年第4期186-187,共2页 Chinese Journal of Laboratory Diagnosis
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参考文献3

  • 1杨之维 马汶敏.大理石骨病1例[J].中华医学遗传学杂志,1994,11:167-167.
  • 2张淑玲.小儿石骨症2例综合报告[J].临床儿科杂志,1994,12(6):393-393.
  • 3朱国政.石骨症2例报告[J].浙江医学,1996,18(4):239-240. 被引量:1

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  • 1Frattini A,Orchard P J,Sobacchi C,et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.Nat Genet,2000;25(3):343-346.
  • 2McMahon C,Will A,Hu P,et al.Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase Ⅱ deficiency syndrome.Blood,2001;97(7):1947-1950.
  • 3Frattini A,Vezzoni P,Villa A.The genetics of dominant osteopetrosis.Drug Discovery Today:Disease Mechanisms,2005;2(4):503-609.
  • 4Ochotny N,Van Vliet A,Chan N,et al.Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.J Biol Chem,2006;281(36):26102-26111.
  • 5Johansson M,Jansson L,Ehinger M,et al.Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis.Exp Hematol,2006;34(2):242-249.
  • 6Kornak U,Kasper D,Bosl MR,et al.Loss of the C1C-7 chloride channel leads to osteopetrosis in mice and man.Cell,2001;104(2):205-215.
  • 7Chalhoub N,Benachenhou N,Rajapurohitam V,et al.Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.Nat Med,2003;9(4):399-406.
  • 8Hey P J,Twells RC,Phillips MS,et al.Cloning of a novel member of the low density lipoprotein receptor family.Gene,1998;216(1):103-111.
  • 9Westendorf JJ,Kahler RA,Schroeder TM.Wnt signaling in osteoblasts andbone diseases.Gene,2004;341:19-39.
  • 10Koay MA,Brown MA.Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton.Trends Mol Med,2005;11(3):129-137.

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