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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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書誌詳細
主要な著者: Koga, Y., Akita, Y., Takane, N., Sato, Y., Kato, H.
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2000
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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