A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

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Bibliographic Details
Title: A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Authors: Kunii, Misako1, Doi, Hiroshi1, Higashiyama, Yuichi1, Kugimoto, Chiharu1, Ueda, Naohisa1, Hirata, Junichi1, Tomita-Katsumoto, Atsuko1, Kashikura-Kojima, Mari1, Kubota, Shun1, Taniguchi, Midori2, Murayama, Kei2, Nakashima, Mitsuko3, Tsurusaki, Yoshinori3, Miyake, Noriko3, Saitsu, Hirotomo3, Matsumoto, Naomichi3, Tanaka, Fumiaki1
Source: Journal of Human Genetics. Apr2015, Vol. 60 Issue 4, p187-191. 5p.
Database: Academic Search Ultimate
Description
ISSN:14345161
DOI:10.1038/jhg.2015.7