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Marfan综合征分子遗传学研究进展 被引量:1

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作者 贾静 伍严安
机构地区 福建省立医院
出处 《医学综述》 2003年第12期717-719,共3页 Medical Recapitulate
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参考文献19

  • 1徐东,万峰,王京生.微纤维元基因突变导致以心血管及眼部症状为主的马凡综合征[J].北京医学,2001,23(1):34-36. 被引量:3
  • 2Reinhardt DP, Ono RN, Notbohm H, et cd. Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis [ J ]. J Biol Chem, 2000,275 (16) : 12339-12345.
  • 3Nijbroed G, Sood S, Meintooh I, et al. Fifteen Novel FBNI Mutations Causing Marfan Syndrome Detected by Heteroduplex Analysis of Genomie Amplicons[J]. Am J Hum Genet. 1995.57( 1 ): 8-21.
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  • 9Lee B, Godfray M, Vitale E, et al. Linkage of Marfan syndrome and aphenotypically related disorder to two different fibrillin genes[ J]. Nature, 1991,352(6333 ) : 330-334.
  • 10Diez HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent novo missense mutation in the fibrillin gene [ J ]. Nature,1991,352(6333) :337-339.

二级参考文献13

  • 1[1]Collod-Beroud G,Beroud C,Ades L,et al.Marfan database (third edition):new mutations and nwe routines for the software.Nucl Acid Res,1998;26:220.
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  • 6[6]Kilty CM,Berry L,Whittaker SP,et al.Microfibrillar assemblies of fetal bovin skin.Matrix,1993,13:103.
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  • 8[8]Milewicz DM,Duvic M.Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.Am J Hum Genet,1994,54:447.
  • 9[9]Nijbbroek G,Sood S,Mclntosh I,et al.Fifteen novel FBN1 mutayions causing Marfan syndrome detectec by heteroduplex analysis of genomic amplicons.Am J Hum Genet,1995,57:8.
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同被引文献1

  • 1陈灏珠.心脏病学[M].北京:人民卫生出版社,2000.558.

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