Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses - Holla, Øystein L.; Nakken, Sigve; Mattingsdal, Morten; Ranheim, Trine; Berge, Knut Erik; Defesche, Joep C.; Leren, Trond P. (Molecular genetics and metabolism, 2009)
Keywords: Base Sequence; Bioinformatics; Blotting, Northern; Cell Line, Transformed; Computational Biology; Computer applications; Computer programs; DNA Mutational Analysis; Epstein-Barr virus; Exons; Familial hypercholesterolemia; Flow cytometry; Gene Expression Regulation; Herpesvirus 4, Human; Humans; Hypercholesterolemia; Intron; Introns; Introns - genetics; Laboratories; LDL receptor; LDLR gene; Lipoprotein (low density) receptors; Lymphocytes; Lymphocytes - metabolism; Lymphocytes - virology; Molecular Sequence Data; mRNA; Mutant Proteins - genetics; Mutant Proteins - metabolism; Mutation; Mutation - genetics; Polymerase chain reaction; Receptors, LDL - genetics; Reverse Transcriptase Polymerase Chain Reaction; Reverse transcription; RNA Precursors - genetics; RNA Splice Sites - genetics; RNA Splicing - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; software; Splicing; Intron; Splicing; mRNA; Familial hypercholesterolemia; Mutation; Bioinformatics; LDL receptor