A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. [electronic resource]
Producer: 20031007Description: 568-72 p. digitalISSN:- 0960-8966
- Adult
- Aged
- Base Sequence
- Blotting, Southern -- methods
- DNA Helicases
- DNA Mutational Analysis
- DNA Primase -- genetics
- DNA-Binding Proteins -- genetics
- Family Health
- Female
- Heterozygote
- Humans
- Lysine -- genetics
- Male
- Middle Aged
- Mitochondrial Proteins
- Molecular Biology -- methods
- Muscles -- metabolism
- Mutation
- Ophthalmoplegia, Chronic Progressive External -- etiology
- Pedigree
- Polymorphism, Restriction Fragment Length
- Reverse Transcriptase Polymerase Chain Reaction -- methods
- Sequence Alignment
- Threonine -- genetics
- Viral Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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