M14 - Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction
Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L.E., Stroud, D.A., Garett, M., Lax, N.Z., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallabrera, C., Hardy, S.A., He, L., Brown, G.K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B.J., Bonnen, P.E., Ryan, M.T., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Taylor, R.W.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction
Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L.E., Stroud, D.A., Garett, M., Lax, N.Z., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallabrera, C., Hardy, S.A., He, L., Brown, G.K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B.J., Bonnen, P.E., Ryan, M.T., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Taylor, R.W.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
Get full text
Journal Article