Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease von Lee, R.G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L.G., Priyadarshi, A., Peng, L.Y., Nuske, M.R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y.A., Boycott, K.M., Geraghty, M.T., Klinken, J.B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D.R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F.M., Reid, G.E., Filipovska, A.

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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease von Lee, Richard G, Balasubramaniam, Shanti, Stentenbach, Maike, Kralj, Tom, McCubbin, Tim, Padman, Benjamin, Smith, Janine, Riley, Lisa G, Priyadarshi, Archana, Peng, Liuyu, Nuske, Madison R, Webster, Richard, Peacock, Ken, Roberts, Philip, Stark, Zornitza, Lemire, Gabrielle, Ito, Yoko A, Boycott, Kym M, Geraghty, Michael T, van Klinken, Jan Bert, Ferdinandusse, Sacha, Zhou, Ying, Walsh, Rebecca, Marcellin, Esteban, Thorburn, David R, Rosciolli, Tony, Fletcher, Janice, Rackham, Oliver, Vaz, Frédéric M, Reid, Gavin E, Filipovska, Aleksandra

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Multi-omics approach characterises CRLS1 deficiency, a novel mitochondrial disorder von Balasubramaniam, Shanti, Lee, Richard G., Padman, Benjamin, Boycott, Kym M., Geraghty, Michael T., Walsh, Rebecca, Ferdinandusse, Sasha, Rackham, Oliver, Vaz, Frédéric M., Rosciolli, Tony, Reid, Gavin E., Fletcher, Janice, Filipovska, Aleksandra

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