References
- Müllrt C. Angina pectoris in hereditary xanthomatosis. Arch Intern Med 1939; 64: 675–700
- Goldstein JL, Brown MS. Familial hypercholester-olemia. The metabolic basis of inherited disease, CR Scriver, AL Baudet, WS Sly, D Valle. McGraw-Hill, New York 1989; 1215–50
- Barnes WM. PCR amplification of up to 35 kb DNA with high fidelity and high yield from λ templates. Proc Natl Acad Sci USA 1994; 91: 2216–20
- Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci USA 1994; 91: 5695–9
- Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985; 228: 815–22
- Radningen OK, Resby O, Tonstad S, Ose L, Berg K, Lena TP. A 9.6 kb deletion in the low density lipopretein receptor gene in Norwegian familial hypereholesterolemia subjects. Clin Genet 1992; 42: 288–95
- Aalto-Setäiä K, Helve E, Kovanen PT, Kontula K. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest 1989; 84: 499–505
- Leitersdorf E, Chakravarti A, Hobbs HH. Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet 1989; 44: 409–21
- Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990; 85: 1014–23
- Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, et al. The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984; 39: 27–38