Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. [electronic resource]
Producer: 20150714Description: 189-95 p. digitalISSN:- 1573-2622
- Asian People -- genetics
- Ataxin-7
- DNA -- genetics
- Electroretinography
- Female
- Genomic Instability -- genetics
- Humans
- Japan
- Magnetic Resonance Imaging
- Middle Aged
- Mosaicism
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Retinal Cone Photoreceptor Cells -- pathology
- Retinal Degeneration -- diagnosis
- Spinocerebellar Ataxias -- diagnosis
- Trinucleotide Repeats -- genetics
- Visual Acuity -- physiology
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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