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Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
OBJECTIVE—To evaluate the frequency of pathogenic mtDNA transfer RNA mutations and deletions in biochemically demonstrable respiratory chain (RC) deficiencies in paediatric and adult patients. METHODS—We screened for deletions and sequenced mitochondrial transfer RNA genes in skeletal muscle DNA fr...
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| Asıl Yazarlar: | , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Group
2001
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734743/ https://ncbi.nlm.nih.gov/pubmed/11584044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.10.665 |
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