title: A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA.
authors.forename: Hussam
authors.initials: H
authors.lastname: Al-Kateb
authors.forename: Ekkehard K F
authors.initials: EK
authors.lastname: Bautz
authors.forename: Friedrich C
authors.initials: FC
authors.lastname: Luft
authors.forename: Sylvia
authors.initials: S
authors.lastname: Bähring
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics*; D017384:Sequence Deletion; D013593:Syria; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D018076:DNA, Complementary; C469745:LDLRAP1 protein, human; D012333:RNA, Messenger