Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Article ID	Journal	Published Year	Pages	File Type
8275472	Journal of the Neurological Sciences	2015	6 Pages	PDF

Keywords

SSD NGS Hsp NMD WES SPG11 Aberrant transcript MRI Magnetic resonance imaging Next-generation sequencing Whole exome sequencing Whole-exome sequencing nonsense-mediated mRNA decay Spastic paraplegia Hereditary spastic paraplegia

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Ageing

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Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Authors

Toshitaka Kawarai, Ryosuke Miyamoto, Atsuko Mori, Ryosuke Oki, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yoshimichi Miyazaki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida, Ryuji Kaji,