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Article

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

American journal of human genetics - 1 Feb 2001

Falush D, Almqvist E W, Brinkmann R R, Iwasa Y, Hayden M R

Abstract excerpt

We describe a new approach for analysis of the epidemiology of progressive genetic disorders that quantifies the rate of progression of the disease in the population by measuring the mutational flow. The framework is applied to Huntington disease (HD), a dominant neurological disorder caused by the expansion of a CAG-trinucleotide sequence to >35 repeats. The disease is 100% penetrant in individuals with > or =...

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Identifiers

PMID: 11225602
DOI: 10.1086/318193
PMCID: PMC1235271

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