A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?
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Overview
status
publication date
- January 1, 2001
has subject area
- 06 Biological Sciences (FoR)
- 11 Medical and Health Sciences (FoR)
- Base Sequence (MeSH)
- Blotting, Western (MeSH)
- Cataract (MeSH)
- DNA Mutational Analysis (MeSH)
- DNA, Mitochondrial (MeSH)
- Dystonia (MeSH)
- Family Health (MeSH)
- Female (MeSH)
- Frameshift Mutation (MeSH)
- Genetics & Heredity (Science Metrix)
- Humans (MeSH)
- Male (MeSH)
- NADH Dehydrogenase (MeSH)
- NADH, NADPH Oxidoreductases (MeSH)
- Pedigree (MeSH)
published in
- Journal of Medical Genetics Journal