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Article

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

1 Mar 2007

Abstract excerpt

OBJECTIVE: To obtain penetrance data for Huntington's disease when DNA results are in the range of 36-39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. METHOD: Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA samples were re-analysed in two reference centres....

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PMID: 17361007
DOI: 10.1136/jmg.2006.045120

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