Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
Yamamoto, Toshiyuki; Shimojima, Keiko; Shibata, Takashi; Akiyama, Mari; Oka, Makio; Akiyama, Tomoyuki; Yoshinaga, Harumi; Kobayashi, Katsuhiro
- 期刊名称Human Genome Variation
- 作者Yamamoto, Toshiyuki; Shimojima, Keiko; Shibata, Takashi; Akiyama, Mari; Oka, Makio; Akiyama, Tomoyuki; Yoshinaga, Harumi; Kobayashi, Katsuhiro
- 卷第2卷
- 电子ISSN2054-345X
- 文件大小1436.44KB
- 发表时间2015-11-19
- DOI10.1038/hgv.2015.48