Article
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.
Gene - 16 Oct 2002
Nikali Kaisu, Saharinen Juha, Peltonen Leena
Abstract excerpt
In our search for the disease gene underlying autosomally recessively inherited infantile onset spinocerebellar ataxia (IOSCA), we identified an expressed sequence tag cluster representing a previously uncharacterized transcript in the restricted genomic sequence covering the IOSCA locus on chromosome 10q24, and for mutation analyses in IOSCA patients isolated the corresponding novel human cDNA, C10orf6. Multiple...
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