Genetic Testing for Long QT Syndrome - Distinguishing Pathogenic Mutations from Benign Variants

Samankaltaisia teoksia

• Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Non-Synonymous Single Nucleotide Variants in Type 1 and 2 Long QT Syndrome
  Tekijä: Giudicessi, John R., et al.
  Julkaistu: (2012)
• Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
  Tekijä: Tester, David J., et al.
  Julkaistu: (2010)
• Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION(®) long QT syndrome genetic test
  Tekijä: Kapplinger, Jamie D., et al.
  Julkaistu: (2009)
• GENETICS OF LONG QT SYNDROME
  Tekijä: Tester, David J., et al.
  Julkaistu: (2014)
• Utilizing the Genome Aggregation Database, Computational Pathogenicity Prediction Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations from Pathogenic to Benign
  Tekijä: Clemens, Daniel J., et al.
  Julkaistu: (2017)