Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.

Sha Tang,Siby P Moonnumakal,Blair Stevens,Ganka Douglas, Sally Mason,Eric S Schmitt,Christine M Eng, Marcia Katz,Ping Fang

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society（2013）

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摘要

The c.2988+1616_c.3367+356del3796ins62 complex rearrangement is a recurrent mutation from patients of different ethnic backgrounds. This mutation can be detected through a simple PCR based analysis.

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关键词

CFTR,Rearrangement,MLPA,Carrier screening

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