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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR. Wright GEB, et al. Among authors: richards f. Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104771 Free PMC article.
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.
Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR. Chong SS, et al. Among authors: richards f. Hum Mol Genet. 1997 Feb;6(2):301-9. doi: 10.1093/hmg/6.2.301. Hum Mol Genet. 1997. PMID: 9063751
Juvenile Huntington disease.
Geevasinga N, Richards FH, Jones KJ, Ryan MM. Geevasinga N, et al. J Paediatr Child Health. 2006 Sep;42(9):552-4. doi: 10.1111/j.1440-1754.2006.00921.x. J Paediatr Child Health. 2006. PMID: 16925544
699 results