The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation-Reference-Cited by-同舟云学术

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The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

Published:2005-12-22 Issue:3 Volume:51 Page:189-195
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Costa Maria do Carmo,Magalhães Paula,Guimarães Laura,Maciel Patrícia,Sequeiros Jorge,Sousa Alda

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200629.pdf

Reference23 articles.

1. Almqvist EW et al (1995) Ancestral differences in the distribution of the Δ 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet 4:207–214

2. Andrés AM, Lao O, Soldevila M, Calafell F, Bertranpetit J (2002) Dynamics of CAG repeat loci revealed by the analysis of their variability. Hum Mutat 21:61–70

3. Andrew SE et al (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nat Genet 4:398–403

4. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65–67

5. Cossée M et al (1997) Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 94:7452–7457

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