Associated Papers
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A et al.
Neurology, 2013
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
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