Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

• 16 November 1999
• journal article
• research article
• Published by Springer Nature in Human Genetics
• Vol. 105  (6) , 560-563
• https://doi.org/10.1007/s004390051145

Abstract

Keywords

• COX
• DEFICIENCY
• MUTATIONS
• STRUCTURAL
• CODON
• PROTEIN
• FUNCTION
• SURFEIT
• SURF1