New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Mancuso, Michelangelo
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. [electronic resource] - Archives of neurology May 2005 - 745-7 p. digital
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.
0003-9942
10.1001/archneur.62.5.745 doi
Blotting, Northern--methods
DNA Mutational Analysis--methods
Female
Hepatic Encephalopathy--etiology
Homozygote
Humans
Infant
Liver--metabolism
Mitochondrial Diseases--complications
Muscles--metabolism
Mutation
Phosphotransferases (Alcohol Group Acceptor)--genetics
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods
Siblings
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. [electronic resource] - Archives of neurology May 2005 - 745-7 p. digital
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.
0003-9942
10.1001/archneur.62.5.745 doi
Blotting, Northern--methods
DNA Mutational Analysis--methods
Female
Hepatic Encephalopathy--etiology
Homozygote
Humans
Infant
Liver--metabolism
Mitochondrial Diseases--complications
Muscles--metabolism
Mutation
Phosphotransferases (Alcohol Group Acceptor)--genetics
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods
Siblings