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单纯型大疱性表皮松解症一家系K14基因突变的检测 被引量:2

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摘要 单纯型大疱性表皮松解症(EBS)是遗传性大疱性表皮松解症的一种,临床表现为皮肤的脆性增加及轻微创伤后出现水疱。
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2011年第2期76-77,共2页 Journal of Clinical Dermatology
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  • 2Smith F.The molecular genetics of keratin disorders[j].Am J Clin Dermatol,2003,4(5):347-364.
  • 3Savtchenko ES,Freedberg IM,Choi IY,et al.Inactivation of human keratin genes:the spectrum of mutations in the sequence of an acidic keratin pseudogene[J].Mol Biol Evol,1988,5(1):97-108.
  • 4Hut PH,v d Vlies P,Jonkman MF,et al.Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomie keratin 14 hotspot mutation analysis[J].J Invest Dermatol,2000,114(4):616-619.
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