Taanman, Jan-Willem

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. [electronic resource] - Human mutation Feb 2009 - 248-54 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20852 doi


Adolescent
Cells, Cultured
DNA Mutational Analysis
DNA Polymerase gamma
DNA, Mitochondrial--genetics
DNA-Directed DNA Polymerase--genetics
Female
Fibroblasts--enzymology
Holoenzymes--metabolism
Humans
Immunoblotting
Infant
Infant, Newborn
Male
Mutation--genetics