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Authors: Johan L.K. Van Hove
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Journal Article

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

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Marisa W. Friederich and others
Human Molecular Genetics, Volume 26, Issue 4, 15 February 2017, Pages 702–716, https://doi.org/10.1093/hmg/ddw431
Published: 30 December 2016
Journal Article

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

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Peter R. Baker and others
Brain, Volume 137, Issue 2, February 2014, Pages 366–379, https://doi.org/10.1093/brain/awt328
Published: 10 December 2013
Journal Article

The mutational spectrum of human malignant autosomal recessive osteopetrosis

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Cristina Sobacchi and others
Human Molecular Genetics, Volume 10, Issue 17, 15 August 2001, Pages 1767–1773, https://doi.org/10.1093/hmg/10.17.1767
Published: 15 August 2001