Work

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Year: 2016

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2016.05.005

Authors: Tuva Barøy, Christeen Ramane J. Pedurupillay, Yngve T. Bliksrud, Magnhild Rasmussen, Asbjørn Holmgren, Magnus D. Vigeland, Timothy Hughes, Maaike Brink, Richard Rodenburg, Bård Nedregaard, Petter Strømme, Eirik Frengen, Doriana Misceo

Institutions: Oslo University Hospital, University of Oslo, Radboud University Medical Center

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: closed

Funders: Norges Forskningsråd, Medical Research Council

OpenAlex ID: W2375965469

FWCI: 1.212

Cites: 18

Cited by: 22

Related to: 10