An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

Author:

Ishikawa Kinya,Toru Shuta,Tsunemi Taiji,Li Mingshun,Kobayashi Kazuhiro,Yokota Takanori,Amino Takeshi,Owada Kiyoshi,Fujigasaki Hiroto,Sakamoto Masaki,Tomimitsu Hiroyuki,Takashima Minoru,Kumagai Jiro,Noguchi Yoshihiro,Kawashima Yoshiyuki,Ohkoshi Norio,Ishida Gen,Gomyoda Manabu,Yoshida Mari,Hashizume Yoshio,Saito Yuko,Murayama Shigeo,Yamanouchi Hiroshi,Mizutani Toshio,Kondo Ikuko,Toda Tatsushi,Mizusawa Hidehiro

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference44 articles.

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3. Missense mutations in the regulatory domain of PKCγ: a new mechanism for dominant nonepisodic cerebellar ataxia;Chen;Am J Hum Genet,2003

4. The human Rho-GEF trio and its target GTPase RhoG are involved in the NGF pathway, leading to neurite outgrowth;Estrach;Curr Biol,2002

5. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1;Flanigan;Am J Hum Genet,1996

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