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Familial hypercholesterolemia. Acceptor splice site (G→C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061(−1) G→C]

Familial HypercholesterolemiaMendelian DisorderGenetic DisorderAcceptor Splice SiteGeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationMedicineCardiovascular GeneticsExon 8