Identification of Novel Missense Mutation G571E, Novel Silent Mutation H229H, Nonsense Mutation C74X, and Four Single Nucleotide Polymorphisms in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg

Russian Journal of Bioorganic Chemistry

Volumn 27, Issue 5, 2001, Pages 349-351

  Zakharova, F M ^a   Golubkov, V I ^a   Mandelshtam, M Ju ^a   Lipovetskii, B M ^b   Gaitskhoki, V S ^a  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Russian Federation)

^b RUSSIAN ACADEMY OF SCIENCES   (Russian Federation)

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor; Mutation; Single nucleotide polymorphisms

Indexed keywords

EID: 0035647555     PISSN: 10681620     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1012300632671     Document Type: Article

References (17)

1. Goldstein, J.L. and Brown, M.S., The Metabolic Basis of Inherited Disease. 6th Ed., Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: MacGraw Hill, 1989, pp. 1577-1698.
2. Hobbs, H.H., Brown, M.S., and Goldstein, J.L., Hum. Mutat., 1992, vol. 1, pp. 445-466.
3. Mandelshtam, M.Ju., Golubkov, V.I., Shur, Yu.A., Lipovetsky, B.M., and Gaitskhoki, V.S., Bioorgan. Khim., 1998, vol. 24, pp. 798-800.
4. Chakir, Kh., Mandelshtam, M.Ju., Shevtsov, S.P., Golubkov, V.I., Skobeleva, N.A., Schur, Yu.A., Zakharova, F.M., Lipovetskyi, B.M., Konstantinov, V.O., Denisenko, A.D., Gaitskhoki, V.S., and Schwartz, E.I., Mol. Genet. Metab., 1998, vol. 65, pp. 311-314.
5. Yamamoto, T., Davis, C.G., Brown, M.S., Schneider, W.J., Casey, M.L., Goldstein, J.L., and Russell, D.W., Cell, 1984, vol. 39, pp. 27-38.
6. Hirayama, T., Yamaki, E., Hata, A., Tsuji, M., Hashimoto, K., Yamamoto, M., and Emi, M., J. Hum. Genet., 1998, vol. 43, pp. 250-254.
7. Geisel, J., Weisshaar, B., Oette, K., Mechtel, M., and Dorfler, W., Nucleic Acids Res., 1987, vol. 15, p. 3943.
8. Lombardi, P., Sijbrands, E.J., Kamerling, S., Leuven, J.A., and Havekes, L.M., Hum. Genet., 1997, vol. 99, pp. 106-107.
9. Kotze, M.J., Retief, A.E., Brink, P.A., and Weich, H.F.H., S. Afr. Med. J., 1986, vol. 70, pp. 77-79.
10. Leitersdorf, E. and Hobbs, H., Nucleic Acids Res., 1988, vol. 16, p. 7215.
11. Kunkel, L.M., Smith, K.D., Boyer, S.H., et al., Proc. Natl. Acad. Sci. USA, 1997, vol. 74, pp. 1245-1249.
12. Bell, G.I., Karam, J.H., and Rutter, W.J., Proc. Natl. Acad. Sci. USA, 1981, vol. 78, pp. 5759-5763.
13. Sambrook, J., Fritsch, E.F., and Maniatis, T., Molecular Cloning: A Laboratory Manual, 2nd. Ed., Cold Spring Harbor, N.Y: Cold Spring Harbor Lab., 1989.
14. Oto, M., Miyake, S., and Ywaza, Y., Anal. Biochem., 1993, vol. 213, pp. 19-22.
15. White, M.B., Carvalho, M., Derse, D., O'Brian, S.J., and Dean, M., Genomics, 1992, vol. 12, pp. 301-306.
16. Orita, M., Suzuki, Y., Sekiya, T., and Hayashi, K., Genomics, 1989, vol. 5, pp. 874-879.
17. Markoff, A., Savov, A., Vladimirov, V., Bogdanova, N., Kremensky, I., and Ganov, V., Clin. Chem. (Washington, D. C.), 1997, vol. 43, pp. 30-33.