A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. [electronic resource]
Producer: 20141125Description: 493-6 p. digitalISSN:- 1559-1166
- ATP-Dependent Proteases -- genetics
- ATPases Associated with Diverse Cellular Activities
- Age of Onset
- Amino Acid Sequence
- Amino Acid Substitution
- Disease Progression
- Family Health
- Female
- Genes, Mitochondrial -- genetics
- Germany
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Spinocerebellar Ataxias -- genetics
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Publication Type: Case Reports; Journal Article
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