Associated Papers
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
23829769 (PubMed )
Supplement: 1750-1172-8-96-S1.docx
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
Poyau A et al.
Human Genetics, 2000
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