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Sanz, Javier; von Känel, Thomas; Schneider, Mircea; Steiner, Bernhard; Schaller, André; Gallati, Sabina (2010). The CFTR frameshift mutation 3905insT and its effect at transcript and protein level. European journal of human genetics, 18(2), pp. 212-7. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2009.140
Schneider, Mircea; von Känel, Thomas; Sanz, Javier; Gallati, Sabina (2009). Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler using MLPA hybridization probes. Clinica chimica acta, 402(1-2), pp. 47-53. Amsterdam: Elsevier 10.1016/j.cca.2008.12.017
Schaller, André; von Känel, Thomas; Gehr, Benedikt; Sanz, Javier; Gallati, Sabina (2007). Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry. European journal of human genetics, 15(1), pp. 53-61. Houndmills, UK: Nature Publishing Group 10.1038/sj.ejhg.5201725
Schneider, Mircea; Joncourt, Franziska; Sanz, Javier; von Känel, Thomas; Gallati, Sabina (2006). Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler. Clinical chemistry, 52(11), pp. 2005-12. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2005.065136
