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References

  • 1
    Uitto J, Richard G, McGrath JA. Diseases of epidermal keratins and their linker proteins. Exp Cell Res 2007; 313: 19952009.
  • 2
    Ashkenazy H, Erez E, Martz E et al. ConSurf 2010. calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res 2010; 38: W52933.
  • 3
    Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997; 4: 31123.
  • 4
    Han S, Cooper DN, Bowden PE. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. Br J Dermatol 2006; 155: 2013.
  • 5
    Wilson NJ, Leachman SA, Hansen CD et al. A large mutational study in pachyonychia congenita. J Invest Dermatol 2011; 131: 101824.
  • 6
    Ars E, Serra E, Garcia J et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000; 9: 23747.
  • 7
    Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A>G, 2751+2T>A, 296+1G>C, 171–9>C-D565G) and one nonsense mutation (E822X) in the CFTR gene. Hum Genet 2001; 109: 592601.
  • 8
    Teraoka SN, Telatar M, Becker-Catania S et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 1999; 64: 161731.
  • 9
    Walker LC, Whiley PJ, Couch FJ et al. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat 2010; 31: E1484505.
  • 10
    Fortugno P, Grosso F, Zambruno G et al. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet 2012; 57: 31115.