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异常白蛋白血症的分子研究进展 被引量:4

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出处 《检验医学》 CAS 北大核心 2006年第1期82-84,共3页 Laboratory Medicine
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参考文献12

  • 1王小青,徐克,陈坚,徐献宗,刘慧敏,唐少华.遗传性双白蛋白血症四例先证患者分析[J].中华检验医学杂志,2005,28(8):831-833. 被引量:4
  • 2Watkins S, Madison J, Galliano M, et al. Analbuminemia:three cases resulting from different point mutations in the albumin gene[J]. Proc Natl Acad Sci USA, 1994, 91 : 9417-9421.
  • 3Brennan SO, Carrell RW. A circulating variants of human proalbumin[J]. Nature, 1978, 274 : 908-909.
  • 4Takahashi N, Takahashi Y, Putnam FW. Structural changes and metal binding by proalbumin and orther amino-terminal genetic variants of human serum albumin[J]. Proc Natl Acad Sci USA, 1987, 84: 7403-7407.
  • 5Galliano M, Minchiotti L, Stoppini M, et al. A new proalbumin variants: albumin Jaffna(-1 Arg-Leu)[J]. FEBS Lett,1989, 255 : 295-299.
  • 6Brennan SO, Peach R J, Boswell DR. Novel human proalbumin variants with intact dibasic sequence facilitates identification of its converting enzyme[J]. Biochim Biophys Acta,1989, 993 : 48-50.
  • 7Minchiotti L, Campagnoli M, Rossi A, et al. A nucleotide insertion and frameshift cause albumin kenitra, an extended and o-glycosylated mutant of human serum albumin with two addititional disulfide bridge[J]. Eur J Biochim, 2001, 268: 344-352.
  • 8Watkins S, Madison J, Davis E, et al. A donor splice mutation and a single-base deletion produce two earboxyl-terminal varitants of human serum albumin[J]. Proc Natl Acad Sci USA, 1991, 88: 5959-5963.
  • 9Peach R J, Fellowed AP, Brennan SO, et al. Albumin rugby park : a truncated albumin variants caused by a G-C splice-site mutation in intron 13[J]. Biochim Biophys Acta, 1992,1180:107-110.
  • 10Galliano M, Campagnoli M. Molecular diagnoisis of analbuminemia : a novel mutation identified in two American and two Turkish families[J]. Biochim Biophys Acta, 2002, 1586:43 -49.

二级参考文献6

  • 1吴时耕,涂世杰,邹学森.双白蛋白血症—家系10年追踪调查分析[J].江西医学检验,1998,16(1):12-16. 被引量:5
  • 2Fine JM, Marneux M, Rochu D. Human albumin genetics variants:Am attempt at a classification of European allotype. Am J Hum Genet, 1987 ,40 :278-286.
  • 3Brennan SO, Aroci K, Madison J, et al. Hypermutability of CpG Dinucleotide in the propeptide-encoding sequence of the human albumin gene. Proc Natl Acad Sci U S A,1990,87:3909-3913.
  • 4Watkins S, Madison J, Galliano M, et al. A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc Natl Acad Sci USA, 1994,91:2275-2279.
  • 5张秀祥 蔡建霖 石志忠.一个患者家族性血蛋白异常甲状腺素过高的华人家庭的病例[J].Hong Kong Ned,2003,9:464-467.
  • 6Galliano M, Campagnoli M, Rossi A, et al. Molecular diagnosis of analbuminemia: A novel mutation identified in two amerindian and two turkish families. Clin Chem, 2002, 48 (6pt1) : 844-849.

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