Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
Katagiri, Satoshi
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. [electronic resource] - Documenta ophthalmologica. Advances in ophthalmology Jun 2015 - 189-95 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1573-2622
10.1007/s10633-015-9488-8 doi
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
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. [electronic resource] - Documenta ophthalmologica. Advances in ophthalmology Jun 2015 - 189-95 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1573-2622
10.1007/s10633-015-9488-8 doi
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