New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. [electronic resource]
Producer: 20050617Description: 745-7 p. digitalISSN:- 0003-9942
- 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
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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.
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