Mutation detection in glycogen storage disease type II by RT-PCR and automated sequencing

Biochemical and Biophysical Research Communications

Volumn 241, Issue 2, 1997, Pages 414-418

  Hermans, Monique M P ^a   Van Leenen, Dik ^a   Kroos, Marian A ^a   Reuser, Arnold J J ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUCOSIDASE; MESSENGER RNA;

ARTICLE; AUTOMATION; DELETION MUTANT; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; INFANT; LYSOSOME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0031577789     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1997.7811     Document Type: Article

References (16)

1. 1. Hers, H. G. (1963) Biochem. J. 86, 11-16.
2. 2. Reuser, A. J. J., Kroos, M. A., Hermans, M. M. P., Bijvoet, A. G. A., Verbeet, M. P., Van Diggelen, O. P., Kleijer, W. J., and Van der Ploeg, A. T. (1995) Muscle & Nerve 3, S61-69.
3. 3. Pompe, J. C. (1932) Ned. Tijdschr. Geneesk. 76, 304-311.
4. 4. Engel, A. G. (1986) In Basic and Clinical Myology. (Engel, A. G., and Banker, B. Q., Eds), pp. 1629-1650, McGraw Hill Co.
5. 5. Hirschhorn, R. (1995) In The metabolic and molecular bases of inherited disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D. Eds.) pp. 2443-2464, McGraw Hill Co. Vol II.
6. 6. Van der Ploeg, A. T., Hoefsloot, L. H., Hoogeveen-Westerveld, M., Petersen, E. M., and Reuser, A. J. JA. J. (1989). Am. J. Hum. Genet. 44, 787-793.
7. 7. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Press, Cold Spring Harbor.
8. 8. Kroos, M. A., Young, E. P., Joosse, M., Winchester, B., Reuser, A. J. J., and MacDermot, K. D. (1997a) J. Inher. Metab. Dis. 20, 556-558.
9. 9. Huie, M. L., Chen, A. S., Tsujino, S., Shanske, S., DiMauro, S., Engel, S., and Hirschhorn, R. (1994) Hum. Mol. Genet. 3, 2231-2236.
10. 10. Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., and Raben, N. (1995) Am. J. Hum. Genet. 56, 887-897.
11. 11. Raben, N., Nichols, R. C., Martiniuk, F., and Plotz, P. H. (1996) Hum. Mol. Genet. 5, 995-1000.
12. 12. Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., and Reuser, A. J. J. (1997b) Hum. Mutat. 9, 17-22.
13. 13. Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, N., and Wevers, R. (1995) J. Med. Genet. 32, 836-837.
14. 14. Wokke, J. H. J., Ausems, M. G. E. M., Van den Boogaard, M. H., Ippel, E. F., Van Diggelen, O., Kroos, M. A., Boer, M., Jennekens, F. G. I., Reuser, A. J. J., and Ploos van Amstel, H. K. (1995) Ann. Neurol. 38, 450-454.
15. 15. Adams, E. M., Becker, J. A., Griffith, L., Segal, A., Plotz, P. H., and Raben, N. (1997) Hum. Mutat. 10, 128-134.
16. 16. Beesley, C. E., Child, A. H., and Yacoub, M. H. (1997) Hum. Mutat. (in press).