Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families.

Priscila Nicolicht,Douglas O S Faria,Leonardo Martins-Silva,Luana S M Maia,Adriana S Moreno,L K Arruda,Antonio A Motta,Anete S Grumach,João B Pesquero

Gene（2019）

引用 8|浏览15

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摘要

•EQT is a rapid and efficient test for analysis of large deletions and insertions.•EQT is method for detection of recombination caused by Alu elements in SERPING1.•EQT serves as a support technique for precise molecular diagnosis of HAE.

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关键词

C1s,C1r,C1q,C1-INH,DNA,EQT,FECH,HAE,MASP-2,MLPA,PCR,QMPSF,RFU

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