Literature DB >> 23609978

Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.

Sharon D Whatley, Nicola G Mason, Jonathan M Rhodes, M Felicity Stewart, Paul Reed, Vivion Crowley, Cindy M Darby, Michael N Badminton.   

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Year:  2013        PMID： 23609978     DOI： 10.1373/clinchem.2012.199117

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  2 in total

1.  Graphene oxide-based fluorometric determination of microRNA-141 using rolling circle amplification and exonuclease III-aided recycling amplification.

Authors:  Mei Li; Xiong Xu; QingYou Cai; XuJian Luo; ZhongGao Zhou; GuoHai Xu; YongRong Xie
Journal:  Mikrochim Acta       Date:  2019-07-13       Impact factor: 5.833

2.  Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Authors:  Niall P Keegan; Steve D Wilton; Sue Fletcher
Journal:  Front Genet       Date:  2022-01-24       Impact factor: 4.772
  2 in total

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