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Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR

The association of a particular mitochondrial DNA (mtDNA) mutation with different clinical phenotypes is a well-known feature of mitochondrial diseases. A simple genotype–phenotype correlation has not been found between mutation load and disease expression. Tissue and intercellular mosaicism as well...

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Detalhes bibliográficos
Main Authors: Szuhai, Károly, Ouweland, Jody M. van den, Dirks, Roeland W., Lemaître, Marc, Truffert, Jean-Christophe, Janssen, George M., Tanke, Hans J., Holme, Elisabeth, Maassen, J. Antonie, Raap, Anton K.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC30414/
https://ncbi.nlm.nih.gov/pubmed/11160915
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