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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene
AIMS—To clarify the phenotype-genotype relation associated with the A3243G mitochondrial DNA mutation. METHODS—Five unrelated probands harbouring the A3243G mutation but presenting different clinical phenotype were analysed. Probands include Leigh syndrome (LS(3243)), mitochondrial myopathy, encepha...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2000
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718342/ https://ncbi.nlm.nih.gov/pubmed/10799437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.82.5.407 |
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