Wallace 1988 Science: Difference between revisions
(Created page with "{{Publication |title=Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's here...") |
No edit summary |
||
| Line 1: | Line 1: | ||
{{Publication | {{Publication | ||
|title=Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. https://doi.org/10.1126/science.3201231 | |title=Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. https://doi.org/10.1126/science.3201231 | ||
|info=Science 242:1427-30. [https://www.ncbi.nlm.nih.gov/pubmed/3201231 PMID: 3201231 | |info=Science 242:1427-30. [https://www.ncbi.nlm.nih.gov/pubmed/3201231 PMID: 3201231] | ||
|authors=Wallace Douglas C, Singh Gurparkash, Lott Marie T, Hodge Judy A, Schurr Theodore G, Lezza Angela M, Elsas Louis J 2nd, Nikoskelainen Eeva K | |authors=Wallace Douglas C, Singh Gurparkash, Lott Marie T, Hodge Judy A, Schurr Theodore G, Lezza Angela M, Elsas Louis J 2nd, Nikoskelainen Eeva K | ||
|year=1988 | |year=1988 | ||
Latest revision as of 16:19, 13 September 2023
| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. https://doi.org/10.1126/science.3201231 |
» Science 242:1427-30. PMID: 3201231
Wallace Douglas C, Singh Gurparkash, Lott Marie T, Hodge Judy A, Schurr Theodore G, Lezza Angela M, Elsas Louis J 2nd, Nikoskelainen Eeva K (1988) Science
Abstract: Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
• Bioblast editor: Plangger M
Labels:
2023-09
