Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
Elpeleg
O N
ON
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
Shaag
A
A
Glustein
J Z
JZ
Anikster
Y
Y
Joseph
A
A
Saada
A
A
D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics / Q000302:isolation & purification; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D021382:Protein Sorting Signals / Q000235:genetics*
D004272:DNA, Mitochondrial; D021382:Protein Sorting Signals; D008058:Dihydrolipoamide Dehydrogenase