De novo KIF1A mutations cause intellectual deficit,...

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Journal of Human Genetics 2015 / 09

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Ohba, Chihiro, Haginoya, Kazuhiro, Osaka, Hitoshi, Kubota, Kazuo, Ishiyama, Akihiko, Hiraide, Takuya, Komaki, Hirofumi, Sasaki, Masayuki, Miyatake, Satoko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mi
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Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2015.108
Date:
September, 2015
File:
PDF, 733 KB
english, 2015
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