RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.
Tosi
Mario
M
Inserm U614, Faculty of Medicine, Rouen Institute for Biomedical Research, Rouen, France. Mario.Tosi@univ-rouen.fr
Stamm
Stefan
S
Baralle
Diana
D
D003226:Congresses as Topic; D004252:DNA Mutational Analysis / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods*; D005826:Genetics, Medical; D006801:Humans; D008954:Models, Biological; D012326:RNA Splicing / Q000235:genetics*