High Germinal Instability of the (CTG)(n) at the SCA8 Locus of Both Expanded and Normal Alleles

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4–SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPL...

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Main Authors: Silveira, I., Alonso, I., Guimarães, L., Mendonça, P., Santos, C., Maciel, P., Fidalgo de Matos, J. M., Costa, M., Barbot, C., Tuna, A., Barros, J., Jardim, L., Coutinho, P., Sequeiros, J.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2000
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Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288166/
https://ncbi.nlm.nih.gov/pubmed/10712199
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