Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders;Andrew;Hum Mol Genet,1997
2. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size;Brinkman;Am J Hum Genet,1997
3. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses;Chong;Hum Mol Genet,1997
4. Huntington disease: genetics and epidemiology;Conneally;Am J Hum Genet,1984
5. Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range;De Rooij;J Med Genet,1993
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