Expansion of a 27 CAG repeat allele into a symptomatic Huntington disease-producing allele
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference6 articles.
1. Laboratory Guidelines for Huntington Disease Genetic Testing
2. Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses
3. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
4. Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. REVIEW-ARTICLE Intermediate alleles of Huntington’s disease HTT gene in different populations worldwide: a systematic review;Genetics and Molecular Research;2017
2. Huntington Disease;Genetic Counseling for Adult Neurogenetic Disease;2014-10-14
3. Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results;Clinical Genetics;2014-01-15
4. High frequency of intermediate alleles on huntington disease-associated haplotypes in British Columbia's general population;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2013-08-30
5. De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype;Neurology;2013-08-14
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