Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is...
| 主要な著者: | , , , , , , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
2009
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| _version_ | 1826276849338023936 |
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| author | Poulton, J Hirano, M Spinazzola, A Arenas Hernandez, M Jardel, C Lombès, A Czermin, B Horvath, R Taanman, J Rotig, A Zeviani, M Fratter, C |
| author_facet | Poulton, J Hirano, M Spinazzola, A Arenas Hernandez, M Jardel, C Lombès, A Czermin, B Horvath, R Taanman, J Rotig, A Zeviani, M Fratter, C |
| author_sort | Poulton, J |
| collection | OXFORD |
| description | These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http://tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders. |
| first_indexed | 2024-03-06T23:20:01Z |
| format | Journal article |
| id | oxford-uuid:686c7bf2-2235-46c6-8856-16658bb91483 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:20:01Z |
| publishDate | 2009 |
| record_format | dspace |
| spelling | oxford-uuid:686c7bf2-2235-46c6-8856-16658bb914832022-03-26T18:44:43ZCollated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:686c7bf2-2235-46c6-8856-16658bb91483EnglishSymplectic Elements at Oxford2009Poulton, JHirano, MSpinazzola, AArenas Hernandez, MJardel, CLombès, ACzermin, BHorvath, RTaanman, JRotig, AZeviani, MFratter, CThese tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http://tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders. |
| spellingShingle | Poulton, J Hirano, M Spinazzola, A Arenas Hernandez, M Jardel, C Lombès, A Czermin, B Horvath, R Taanman, J Rotig, A Zeviani, M Fratter, C Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title | Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title_full | Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title_fullStr | Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title_full_unstemmed | Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title_short | Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). |
| title_sort | collated mutations in mitochondrial dna mtdna depletion syndrome excluding the mitochondrial gamma polymerase polg1 |
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