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Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C; Loureiro, J, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C; Loureiro, J, et al.Abstract Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have rec...