Diagnosis of mitochondrial disease: Assessment of mitochondrial DNA heteroplasmy in blood

Biochemical and Biophysical Research Communications

Volumn 251, Issue 3, 1998, Pages 883-887

  Taylor, Robert W ^a   Taylor, Geoffrey A ^a   Morris, Christopher M ^b   Edwardson, James M ^b   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TECHNIQUE;

EID: 0032578843     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1998.9553     Document Type: Article

References (23)

1. Chinnery P. F., Turnbull D. M. J. Neurol. Neurosurg. Psychiatry. 63:1997;559-563.
2. DiMauro S., Moraes C. T. Arch. Neurol. 50:1993;1197-1208.
3. Lightowlers R. N., Chinnery P. F., Turnbull D. M., Howell N. Trends Genet. 13:1997;450-455.
4. Chinnery P. F., Turnbull D. M., Walls T. J., Reading P. J. Lancet. 350:1997;560.
5. Davis R. E., Miller S., Herrnstadt C., Ghosh S. S., Fahy E., Shinobu L. A., Galasko D., Thal L. J., Beal M. F., Howell N., Parker W. D. Proc. Natl. Acad. Sci. USA. 94:1997;4526-4531.
6. Hirano M., Shtilbans A., Mayeux R., Davidson M., DiMauro S., Knowles J. A., Schon E. A. Proc. Natl. Acad. Sci. USA. 94:1997;14894-14899.
7. Wallace D. C., Stugard C., Murdock D., Schurr T., Brown M. D. Proc. Natl. Acad. Sci. USA. 94:1997;14900-14905.
8. Tsuzuki T., Nomiyama H., Setoyama C., Maeda S., Shimada K. Gene. 25:1983;223-229.
9. Chinnery P. F., Howell N., Lightowlers R. N., Turnbull D. M. Brain. 120:1997;1713-1721.
10. Chinnery P. F., Howell N., Lightowlers R. N., Turnbull D. M. Brain. 1998.
11. Bidooki S. K., Johnson M. A., Chrzanowska-Lightowlers Z., Bindoff L. A., Lightowlers R. N. Am. J. Hum. Genet. 60:1997;1430-1438.
12. Howell N., Halvorson S., Kubacka I., McCullough D. A., Bindoff L. A., Turnbull D. M. Hum. Genet. 90:1992;117-120.
13. Ciafaloni, E. Ricci, E. Shanske, S. Moraes, C. T. Silvestri, G. Hirano, M. Simonetti, S. Angelini, C. Donati, M. A. Garcia, C. Martinuzzi, A. Mosewich, R. Servidei, S. Zammarchi, E. Bonilla, E. DeVivo, D. C. Rowland, L. P. Schon, E. A. DiMauro, S. Ann. Neurol. 31, 391, 398.
14. Sambrook J., Fritsch E. F., Maniatis T. Molecular Cloning: A Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, New York.
15. Schaefer J., Pourfarzam M., Bartlett K., Jackson S., Turnbull D. M. Pediatr. Res. 37:1995;354-360.
16. Yoneda M., Tanno Y., Tsuji S., Attardi G. Methods Enzymol. 264:1996;432-441.
17. Moraes C. T., Ricci E., Bonilla E., DiMauro S., Schon E. A. Am. J. Hum. Genet. 50:1992;934-949.
18. Anderson, S. Bankier, A. T. Barrell, B. G. deBruijn, M. H. LM. H. Coulson, A. R. Drouin, J. Eperon, I. C. Nierlich, D. P. Roe, B. A. Sanger, F. Schreier, P. H. Smith, A. J. HA. J. Staden, R. Young, I. G. Nature, 290, 457, 465.
19. King M. P., Attardi G. Methods Enzymol. 264:1996;313-334.
20. Goto Y., Tojo M., Tohyama J., Horai S., Nonaka I. Ann. Neurol. 31:1992;672-675.
21. Goto Y., Tsugane K., Tanabe Y., Nonaka I., Horai S. Biochem. Biophys. Res. Commun. 202:1994;1624-1630.
22. Schon E. A., Bonilla E., DiMauro S. J. Bioenerg. Biomembr. 29:1997;131-149.
23. Parfait B., Rustin P., Munnich A., Rötig A. Biochem. Biophys. Res. Commun. 247:1998;57-59.