The pathogenicity scoring system for mitochondrial tRNA mutations revisited-Reference-Cited by-同舟云学术

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

Published:2013-11-11 Issue:2 Volume:2 Page:107-114
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

González‐Vioque Emiliano¹²,Bornstein Belén¹³,Gallardo María Esther¹²,Fernández‐Moreno Miguel Ángel¹²,Garesse Rafael¹²

Affiliation:

1. Departamento de Bioquímica Instituto de Investigaciones Biomédicas “Alberto Sols” UAM‐CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Universidad Autónoma de Madrid 28029 Madrid Spain

2. Laboratorio de Enfermedades Mitocondriales Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12) Madrid Spain

3. Servicio de Bioquímica Instituto de Investigación Sanitaria Puerta de Hierro Majadahonda Madrid Spain

Funder

Center for Biomedical Research on Rare Diseases

Instituto de Salud Carlos III

Comunidad de Madrid

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.47

Reference33 articles.

1. Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene

2. New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

3. Quantification of mitochondrial DNA copy number: Pre-analytical factors

4. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers

5. The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines

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