A novel frameshift mutation of SYNE1 in a Japanese family...

Human Genome Variation 2017 / 10 Vol. 4

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Yoshinaga, Tsuneaki, Nakamura, Katsuya, Ishikawa, Masumi, Yamaguchi, Tomomi, Takano, Kyoko, Wakui, Keiko, Kosho, Tomoki, Yoshida, Kunihiro, Fukushima, Yoshimitsu, Sekijima, Yoshiki
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Volume:
4
Language:
english
Journal:
Human Genome Variation
DOI:
10.1038/hgv.2017.52
Date:
October, 2017
File:
PDF, 790 KB
english, 2017
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