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Disease-related versus polymorphic mutations in human mitochondrial tRNAs: Where is the difference?

A number of point mutations in human mitochondrial (mt) tRNA genes are correlated with a variety of neuromuscular and other severe disorders including encephalopathies, myopathies, cardiopathies and diabetes. The complexity of the genotype/phenotype relationships, the diversity of possible molecular...

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Detalhes bibliográficos
Main Authors: Florentz, Catherine, Sissler, Marie
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1083905/
https://ncbi.nlm.nih.gov/pubmed/11415979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/embo-reports/kve111
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