Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. [electronic resource]
Producer: 19961021Description: 914-7 p. digitalISSN:- 0031-3998
- Adenosine Triphosphate -- biosynthesis
- Adolescent
- Adult
- Child, Preschool
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial -- genetics
- Female
- Humans
- Leigh Disease -- genetics
- Male
- Mitochondria -- metabolism
- Pedigree
- Phenotype
- Point Mutation
- Pyruvate Dehydrogenase Complex Deficiency Disease -- genetics
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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