A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia
Zierz, Charlotte M, Baty, Karen, Blakely, Emma L, Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M, Hadjivassiliou, Marios, Sarrigiannis, Ptolemaios G, Ng, Yi Shiau, Taylor, Robert W
Published in Journal of clinical medicine (04.06.2019)
Published in Journal of clinical medicine (04.06.2019)
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Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
Schober, Florian A, Tang, Jia Xin, Sergeant, Kate, Moedas, Marco F, Zierz, Charlotte M, Moore, David, Smith, Conrad, Lewis, David, Guha, Nishan, Hopton, Sila, Falkous, Gavin, Lam, Amanda, Pyle, Angela, Poulton, Joanna, Gorman, Gráinne S, Taylor, Robert W, Freyer, Christoph, Wredenberg, Anna
Published in Human molecular genetics (22.06.2022)
Published in Human molecular genetics (22.06.2022)
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