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Molecular Pathogenesis and Cellular Pathology of Spinocerebellar Ataxia Type 7 Neurodegeneration

Spinocerebellar ataxia type 7 (SCA7) is unique among CAG / polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. SCA7 is caused by a polyQ expansion in the protein ataxin-7. Like other...

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Détails bibliographiques
Auteurs principaux: Garden, Gwenn A., La Spada, Albert R.
Format: Artigo
Langue:Inglês
Publié: 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4195584/
https://ncbi.nlm.nih.gov/pubmed/18418675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-008-0027-y
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