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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2...

Lopes-Cendesi,Iscia; Teive,Hélio G.A.; Calcagnotto,Maria E; da Costa,Jaderson C.; Cardoso,Francisco; Viana,Erika; Maciel,Jaime A.; Radvany,João

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by a...

Date: 1997   |   Origin: Oasisbr

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