Literature DB >> 12205113

Mutation in KCNQ1 that has both recessive and dominant characteristics.

A Murray, F Potet, C Bellocq, I Baró, W Reardon, H E Hughes, S Jeffery.   

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Year:  2002        PMID： 12205113      PMCID： PMC1735237          DOI： 10.1136/jmg.39.9.681

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Authors:  Jerri Chen; Michael Weber; Sung Yon Um; Christine A Walsh; Yingying Tang; Thomas V McDonald
Journal:  Pacing Clin Electrophysiol       Date:  2011-09-02       Impact factor: 1.976

2.  Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Authors:  Judy F Liu; Ilan Goldenberg; Arthur J Moss; Wataru Shimizu; Arthur A Wilde; Nynke Hofman; Scott McNitt; Wojciech Zareba; Yoshihiro Miyamato; Jennifer L Robinson; Mark L Andrews
Journal:  Ann Noninvasive Electrocardiol       Date:  2008-07       Impact factor: 1.468
  2 in total

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