TY  - GEN
AU  - Mancuso,Michelangelo
AU  - Ferraris,Silvio
AU  - Pancrudo,Jacklyn
AU  - Feigenbaum,Annette
AU  - Raiman,Julian
AU  - Christodoulou,John
AU  - Thorburn,David R
AU  - DiMauro,Salvatore
TI  - New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
SN  - 0003-9942
PY  - 2005///0617
KW  - Blotting, Northern
KW  - methods
KW  - DNA Mutational Analysis
KW  - Female
KW  - Hepatic Encephalopathy
KW  - etiology
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Liver
KW  - metabolism
KW  - Mitochondrial Diseases
KW  - complications
KW  - Muscles
KW  - Mutation
KW  - Phosphotransferases (Alcohol Group Acceptor)
KW  - genetics
KW  - RNA, Messenger
KW  - biosynthesis
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Siblings
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1001/archneur.62.5.745
ER  -