Article
AccuCopy quantification combined with pre-amplification of long-distance PCR for fast analysis of intron 22 inversion in haemophilia A.
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2016
Ding Qianlan, Wu Xi, Lu Yeling, Chen Changming, Shen Rui, Zhang Xi, Jiang Zhengwen, Wang Xuefeng
Abstract excerpt
BACKGROUND: To develop a digitalized intron 22 inversion (Inv22) detection in patients with severe haemophilia A. METHODS: The design included two tests: A genotyping test included two multiplex pre-amplification of LD-PCR (PLP) with two combinations of five primers to amplify wild-type and chimeric int22h alleles; a carrier mosaicism test was similar to the genotyping test except only amplification of chimeric...
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