Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP.
Sathasivam K, et al. Among authors: detloff pj.
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22.
Proc Natl Acad Sci U S A. 2013.
PMID: 23341618
Free PMC article.