Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers
对与多聚谷氨酰胺疾病相关的短串联重复序列进行全基因组测序分析发现，HTT 的中间等位基因与 C9orf72 携带者的疾病早期发作相关。
期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcaf220
Barbier, Mathieu; Gareau, Thomas; Camuzat, Agnès; Guillaud-Bataille, Marine; Boluda, Susana; Clot, Fabienne; Araktingi, Lara; Borroni, Barbara; van der Zee, Julie; Ghidoni, Roberta; Bellini, Sonia; Galimberti, Daniela; Rossi, Giacomina; Nacmias, Benedetta; De la Casa-Fages, Beatriz; Pastor, Pau; Latouche, Morwena; le Guern, Eric; Durr, Alexandra; Laquerrière, Annie; Moccia, Rob; Seilhean, Danielle; Alvarez, Victoria; Le Ber, Isabelle
