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. 1992 Jun;50(6):1337–1340.

Reply to Howell et al.: The need for a joint effort in the construction of a reference data base for normal sequence variants of human mtDNA

Sangkot Marzuki, Patcharee Lertrit, A Saifuddin Noer, Robert M I Kapsa, Herawati Sudoyo, Edward Byrne, Dominic Thyagarajan
PMCID: PMC1682561

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
  3. Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PMC free article] [PubMed] [Google Scholar]
  4. Horai S., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet. 1986 Feb;72(2):105–117. doi: 10.1007/BF00283927. [DOI] [PubMed] [Google Scholar]
  5. Marzuki S., Noer A. S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139–145. doi: 10.1007/BF00206061. [DOI] [PubMed] [Google Scholar]
  6. Noer A. S., Sudoyo H., Lertrit P., Thyagarajan D., Utthanaphol P., Kapsa R., Byrne E., Marzuki S. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet. 1991 Oct;49(4):715–722. [PMC free article] [PubMed] [Google Scholar]
  7. Ozawa T., Tanaka M., Sugiyama S., Ino H., Ohno K., Hattori K., Ohbayashi T., Ito T., Deguchi H., Kawamura K. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun. 1991 May 31;177(1):518–525. doi: 10.1016/0006-291x(91)92014-b. [DOI] [PubMed] [Google Scholar]
  8. Shoffner J. M., Lott M. T., Lezza A. M., Seibel P., Ballinger S. W., Wallace D. C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 1990 Jun 15;61(6):931–937. doi: 10.1016/0092-8674(90)90059-n. [DOI] [PubMed] [Google Scholar]
  9. Tanaka M., Ino H., Ohno K., Ohbayashi T., Ikebe S., Sano T., Ichiki T., Kobayashi M., Wada Y., Ozawa T. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun. 1991 Jan 31;174(2):861–868. doi: 10.1016/0006-291x(91)91497-z. [DOI] [PubMed] [Google Scholar]
  10. Thyagarajan D., Byrne E., Noer S., Lertrit P., Utthanophol P., Kapsa R., Marzuki S. Mitochondrial DNA sequence analysis in congenital myotonic dystrophy. Ann Neurol. 1991 Nov;30(5):724–727. doi: 10.1002/ana.410300514. [DOI] [PubMed] [Google Scholar]
  11. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]

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