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20 years of human mtDNA pathologic point mutations: Carefully reading the pathogenicity criteria

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Year: 2008
Type: review
Source: Biochimica et Biophysica Acta (BBA) - Bioenergetics
DOI: 10.1016/j.bbabio.2008.09.003
Authors: Julio Montoya, Ester López-Gallardo, Carmen Díez-Sánchez, Manuel J. López-Pérez, Eduardo Ruiz-Pesini
Institutions: Universidad de Zaragoza, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto Aragonés de Ciencias de la Salud, Fundacion Agencia Aragonesa para la Investigacion y el Desarrollo
Language: English

Topic: Mitochondrial Function and Pathology
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funder: Instituto de Salud Carlos III
OpenAlex ID: W1970429135
FWCI: 0.359
Cites: 103
Cited by: 58
Related to: 10
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