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Article

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Neurogenetics - 1 Mar 2021

Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Matsukawa Takashi, Sakuishi Kaori, Nakamagoe Kiyotaka, Miyake Zenshi, Tamaoka Akira, Goto Jun, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Toda Tatsushi, Tsuji Shoji

Abstract excerpt

Our objective was to investigate the frequency of KIF5A variants in amyotrophic lateral sclerosis (ALS) and the clinical characteristics of familial ALS (FALS) associated with variants in KIF5A. Whole-exome sequence analysis was performed for a Japanese series of 43 families with FALS and 444 patients with sporadic ALS (SALS), in whom causative variants had not been identified. We compared the frequencies of rare...

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PMID: 32815063
DOI: 10.1007/s10048-020-00626-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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