Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA.
Seller
A
A
Oxford Medical Genetics Laboratory, Churchill Hospital, UK.
Kennedy
C R
CR
Temple
I K
IK
Brown
G K
GK
D004272:DNA, Mitochondrial; D017809:Fatal Outcome; D006147:Guanine; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D008297:Male; D017354:Point Mutation; D006180:Proton-Translocating ATPases / Q000235:genetics; D013577:Syndrome; D013941:Thymine
D004272:DNA, Mitochondrial; D006147:Guanine; D006180:Proton-Translocating ATPases; D013941:Thymine