Publication
Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Benjamin Padman, Janine Smith, Lisa G Riley, Archana Priyadarshi, Liuyu Peng, Madison R Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A Ito, Kym M Boycott, Michael T Geraghty, Jan Bert van Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R Thorburn, Tony Rosciolli, Janice Fletcher, Oliver Rackham, Frédéric M Vaz, Gavin E Reid, Aleksandra Filipovska
Human Molecular Genetics, February 2022, Oxford University Press (OUP)
DOI: 10.1093/hmg/ddac040