title: Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene.
authors.affiliation: J. Elisa Bach, Department of Human Genetics, University of Würzburg, Biocenter, Am Hubland, 97074 Würzburg, Germany, Tel.: +49 931 3189102, Fax: +49 931 3184069, E-mail: elisa.bach@uni-wuerzburg.de.
authors.forename: J Elisa
authors.initials: JE
authors.lastname: Bach
authors.forename: Clemens R
authors.initials: CR
authors.lastname: Müller
authors.forename: Simone
authors.initials: S
authors.lastname: Rost
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D005169:Factor VIII / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D057809:HEK293 Cells; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D022821:RNA Splice Sites; D012333:RNA, Messenger / Q000235:genetics*; D017423:Sequence Analysis, RNA / Q000379:methods*; D014162:Transfection
chemical_list: D005819:Genetic Markers; D022821:RNA Splice Sites; D012333:RNA, Messenger; C078147:F8 protein, human; D005169:Factor VIII