A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cer...
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
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Tokyo: Springer Japan
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Language
English
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Tokyo: Springer Japan
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Contents
The molecular bases of autosomal dominant cerebellar ataxia (ADCA) have been increasingly elucidated, but 17–50% of ADCA families still remain genetically undefined in Japan. In this study we investigated 67 genetically undefined ADCA families from the Nagano prefecture, and found that 63 patients from 51 families possessed the −16C>T change in the...
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Full title
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
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TN_cdi_proquest_miscellaneous_68040696
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68040696
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1007/s10038-006-0385-6
