Estimating the Probability of de novo HD cases from Transmissions of Expanded Penetrant CAG Alleles in the Huntington Disease Gene from Male Carriers of High Normal Alleles (27–35 CAG)

Huntington disease (HD) is a dominantly transmitted neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as fully penetrant at ≥ 40, reduced penetrance at 36–39, high normal at 27–35, and normal at ≤ 26. Fathe...

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Bibliografische gegevens
Hoofdauteurs: Hendricks, Audrey E., Latourelle, Jeanne C., Lunetta, Kathryn L., Cupples, L. Adrienne, Wheeler, Vanessa, MacDonald, Marcy E., Gusella, James F., Myers, Richard H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2724761/
https://ncbi.nlm.nih.gov/pubmed/19507258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32901
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