Repeat Instability in the 27–39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications

The instability of the CAG repeat size of the HD gene when transmitted intergenerationally has critical implications for genetic counseling practices. In particular, CAG repeats between 27 and 35 have been the subject of debate based on small samples. To address this issue, we analyzed allelic insta...

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Detalhes bibliográficos
Publicado no:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Brocklebank, D., Gayán, J., Andresen, J.M., Roberts, S.A., Young, A.B., Snodgrass, S.R., Penney, J.B., Ramos-Arroyo, M.A., Cha, J.J., Rosas, H.D., Hersch, S.M., Feigin, A., Cherny, S.S., Wexler, N.S., Housman, D.E., Cardon, L.R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4636008/
https://ncbi.nlm.nih.gov/pubmed/18712713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.30826
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