Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
- 10 November 2018
- journal article
- research article
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 62 (11), 103572
- https://doi.org/10.1016/j.ejmg.2018.11.006
Abstract
No abstract availableFunding Information
- Estonian Research Council (PUT0355)
- BMBF (FKZ 01ZX1405C)
This publication has 20 references indexed in Scilit:
- A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesPLoS Genetics, 2016
- Haematological abnormalities in mitochondrial disordersSingapore Medical Journal, 2015
- Molecular base of biochemical complex I deficiencyMitochondrion, 2012
- Complex I deficiency: clinical features, biochemistry and molecular geneticsJournal of Medical Genetics, 2012
- Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesJournal of Inherited Metabolic Disease, 2012
- LOVD v.2.0: the next generation in gene variant databasesHuman Mutation, 2011
- Fast and accurate short read alignment with Burrows–Wheeler transformBioinformatics, 2009
- Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and developmentGene Expression Patterns, 2007
- Definition of the Nuclear Encoded Protein Composition of Bovine Heart Mitochondrial Complex IPublished by Elsevier BV ,2002
- Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?American Journal of Medical Genetics, 1994