Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis (original) (raw)

References

1. Rider, J. A. & Rider, D. L. Am. J. med. Genet. (Suppl.) 5, 21–26 (1988).
   Article CAS Google Scholar
2. Gardiner, M. et al. Genomics 8, 387–390 (1990).
   Article CAS Google Scholar
3. Järvelä, I. et al. Genomics 9, 170–173 (1991).
   Article Google Scholar
4. Williams, R. et al. Am. J. hum. Genet. 53, 931–935 (1993).
   CAS PubMed PubMed Central Google Scholar
5. Santavuori, P., Haltia, M. & Rapola, J. J. dev. Med. Child Neurol. 16, 644–653 (1974).
   Article CAS Google Scholar
6. Rapola, J. & Haltia, M. Brain 96, 833–840 (1973).
   Article CAS Google Scholar
7. Collins, F. Nature Genet. 1, 3–7 (1992).
   Article ADS CAS Google Scholar
8. Hellsten, E. et al. Genomics 16, 720–725 (1993).
   Article CAS Google Scholar
9. Mäkelä, T. P. et al. Hum. molec. Genet. 1, 217 (1992).
   Article Google Scholar
10. Hellsten, E. et al. Genomics 25, 404–412 (1995).
    Article CAS Google Scholar
11. Nau, M. M. et al. Nature 318, 69–73 (1985).
    Article ADS CAS Google Scholar
12. Mäkelä, T. P., Saksela, K., Evan, G. & Alitalo, K. EMBO J. 10, 1331–1335 (1991).
    Article Google Scholar
13. Perälä, M., Hänninen, M., Hästbackov, J., Elima, K. & Vuorio, E. FEBS Lett. 319, 177–180 (1993).
    Article Google Scholar
14. Camp, L. A., Verkruyse, L. A., Afendis, S. J., Slaughter, C. A. & Hofmann, S. L. J. biol. Chem. 269, 23212–23219 (1994).
    CAS PubMed Google Scholar
15. Derewenda, Z. S. & Sharp, A. M. Trends biochem. Sci. 18, 20–25 (1993).
    Article CAS Google Scholar
16. Witkowski, A., Witkowska, H. E. & Smith, S. J. biol. Chem. 269, 379–383 (1994).
    CAS PubMed Google Scholar
17. Seabra, M. C., Brown, M. S. & Goldstein, J. L. Science 259, 377–381 (1993).
    Article ADS CAS Google Scholar
18. Syvänen, A.-C., Sajantila, A. & Lukka, M. Am. J. hum. Genet. 52, 46–59 (1993).
    PubMed PubMed Central Google Scholar
19. Heiskanen, M. et al. BioTechnology 17, 928–929 (1994).
    CAS Google Scholar
20. Ioannou, P. A. et al. Nature Genet. 6, 84–89 (1994).
    Article CAS Google Scholar
21. Syvänen, A.-C., Aalto-Setälä, K., Kontula, K. & Söderlund, H. FEBS Lett. 258, 71–74 (1989).
    Article Google Scholar
22. Camp, L. A. & Hofmann, S. L. J. biol. Chem. 268, 22566–22574 (1993).
    CAS PubMed Google Scholar
23. Erlanson, C. Scand. J. Gastroenter. 5, 333–336 (1970).
    CAS Google Scholar
24. Stacey, A. & Schnieke, A. Nucleic Acids Res. 18, 2829 (1990).
    Article CAS Google Scholar
25. Taylor, J. W., Ott, J. & Eckstein, F. Nucleic Acids Res. 13, 8764–8765 (1985).
    Google Scholar
26. Sanger, F., Nicklen, S. & Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
    Article ADS CAS Google Scholar
27. Felgner, P. L. et al. Proc. natn. Acad. Sci. U.S.A. 84, 7413–7417 (1987).
    Article ADS CAS Google Scholar
28. Proia, R. L., D'azzo, A. & Neufeld, E. F. J. biol. Chem. 259, 3350–3354 (1984).
    CAS PubMed Google Scholar
29. Laemmli, U. K. Nature 227, 680–685 (1970).
    Article ADS CAS Google Scholar
30. Riikonen, A. et al. DNA Cell Biol. 13, 257–264 (1994).
    Article CAS Google Scholar

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