CAG repeat mosaicism is gene specific in spinocerebellar ataxias
CAG重复序列嵌合现象在脊髓小脑性共济失调中具有基因特异性。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.03.015
Radhia Kacher ,François-Xavier Lejeune ,Isabelle David ,Susana Boluda ,Giulia Coarelli ,Sabrina Leclere-Turbant ,Anna Heinzmann ,Cecilia Marelli ,Perrine Charles ,Cyril Goizet ,Nisha Kabir ,Rania Hilab ,Ludmila Jornea ,Julie Six ,Marc Dommergues ,Anne-Laure Fauret ,Alexis Brice ,Sandrine Humbert ,Alexandra Durr