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]

✍ Scribed by Lu Yu; Elisabeth Heere-Ress; Betsie Boucher; Joep C. Defesche; John Kastelein; Marc-André Lavoie; Jacques Genest Jr

• Book ID: 119438437
• Publisher: Elsevier Science
• Year: 1999
• Tongue: English
• Weight: 257 KB
• Volume: 146
• Category: Article
• ISSN: 0021-9150
• DOI: 10.1016/s0021-9150(99)00109-4