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Mitochondrial DNA analysis: polymorphisms and pathogenicity

The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not ea...

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Detalhes bibliográficos
Main Authors: Chinnery, P., Howell, N., Andrews, R., Turnbull, D.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734403/
https://ncbi.nlm.nih.gov/pubmed/10424809
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