A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano-Reference-Cited by-同舟云学术

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Published:2006-04-14 Issue:5 Volume:51 Page:461-466
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ohata Takako,Yoshida Kunihiro,Sakai Haruya,Hamanoue Haruka,Mizuguchi Takeshi,Shimizu Yusaku,Okano Tomomi,Takada Fumio,Ishikawa Kinya,Mizusawa Hidehiro,Yoshiura Ko-ichiro,Fukushima Yoshimitsu,Ikeda Shu-ichi,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200669.pdf

Reference27 articles.

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4. Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A (2001) CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124:1939–1947

5. Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1–14

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