Work

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

Year: 2017

Type: article

Study design: Case Report

Source: Mitochondrion

DOI: 10.1016/j.mito.2017.02.004

Authors: Mariella T. Simon, Bobby G. Ng, Marisa W. Friederich, Raymond Y. Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J. Buckingham, Richard Chang, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Johan L.K. Van Hove, Hudson H. Freeze, Jose E. Abdenur

Institutions: Children's Hospital of Orange County, University of California, Irvine, Sanford Burnham Prebys Medical Discovery Institute, University of Colorado Anschutz, University of Washington, Howard Hughes Medical Institute

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: National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: UW Center for Mendelian Genomics, Carbohydrate Deficient Glycoprotein Syndromes: Models and Therapy, New Congenital Disorders of Glycosylation: Therapy and Models

OpenAlex ID: W2588962689

FWCI: 1.675

Cites: 36

Cited by: 24

Related to: 10