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pfeiffer syndrome
相关语句
  pfeiffer综合征
     A STUDY OF GENETIC HETEROGENEITY IN PFEIFFER SYNDROME
     Pfeiffer综合征的遗传异质性研究
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  “pfeiffer syndrome”译为未确定词的双语例句
     Methods DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP sequence analyses and PCR restriction enzyme digestion.
     方法采用SSCP-DNA直接测序及PCR-限制性内切酶酶切技术,对4个Pfeifer综合征家系的外周血DNA进行了分析。
短句来源
     Objective To understand the molecular pathology of Pfeiffer syndrome.
     目的为揭示Pfeifer综合征的分子病理缺欠。
短句来源
     Conclusion These findings reveal the genetic heterogeneity of Pfeiffer syndrome and can help one understand the molecular mechanism of the disease.
     结论该项研究结果表明了Pfeifer综合征的遗传异质性,为该病的病因学研究和临床研究提供了有用的资料
短句来源
  相似匹配句对
     SYNDROME
     Noonan氏综合征(附2例报告)
短句来源
     A STUDY OF GENETIC HETEROGENEITY IN PFEIFFER SYNDROME
     Pfeiffer综合征的遗传异质性研究
短句来源
     Objective To understand the molecular pathology of Pfeiffer syndrome.
     目的为揭示Pfeifer综合征的分子病理缺欠。
短句来源
     Susac's Syndrome
     Susac综合征
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  pfeiffer syndrome
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2.
      
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
      
Pfeiffer syndrome is a skeletal disorder characterized by craniosynostosis associated with foot and hand anomalies.
      
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
      
Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome.
      
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Objective To understand the molecular pathology of Pfeiffer syndrome.Methods DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP sequence analyses and PCR restriction enzyme digestion.Results The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3′ acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene(Pro252Arg) was found in a...

Objective To understand the molecular pathology of Pfeiffer syndrome.Methods DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP sequence analyses and PCR restriction enzyme digestion.Results The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3′ acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene(Pro252Arg) was found in a family.Conclusion These findings reveal the genetic heterogeneity of Pfeiffer syndrome and can help one understand the molecular mechanism of the disease.

目的为揭示Pfeifer综合征的分子病理缺欠。方法采用SSCP-DNA直接测序及PCR-限制性内切酶酶切技术,对4个Pfeifer综合征家系的外周血DNA进行了分析。结果2个家系是由FGFR2基因突变所致:1例发生在FGFR2基因第8内含子3′剪切位点部位A→G突变;1例为FGFR2基因第9外显子Asp321Ala突变。另外1个家系是由FGFR1基因第5外显子Pro252Arg突变所致。结论该项研究结果表明了Pfeifer综合征的遗传异质性,为该病的病因学研究和临床研究提供了有用的资料

 
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