A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA

MeSH terms

• Adaptor Proteins, Signal Transducing*
• Adaptor Proteins, Vesicular Transport / genetics*
• Alternative Splicing / genetics*
• Base Sequence
• DNA Mutational Analysis
• DNA, Complementary / chemistry
• DNA, Complementary / genetics
• Genes, Recessive / genetics
• Humans
• Hyperlipoproteinemia Type II / genetics*
• Mutation
• RNA, Messenger / genetics*
• Sequence Deletion
• Syria
• Transfection
• Tumor Cells, Cultured