Work

(Re)defining the concept of "pathogenic mutation" : translational analysis of an unusual lhon case

Year: 2014

Type: dissertation

Abstract: Dissertação de mestrado em Investigação Biomédica, apresentada à Faculdade de Medicina da Universidade de Coimbra

Source: Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)

Author: Pedro Filipe Rebelo Guiomar

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: green

Funders: Universidade de Coimbra, Fundação para a Ciência e a Tecnologia

Award: Investigação bigenómica translacional na Neuropatia Ótica Hereditária de Leber: Correlação Genótipo-Fenótipo

OpenAlex ID: W2270428642

Cites: 84

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Related to: 10