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

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 patie...

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Veröffentlicht in:	Neurogenetics 2021-03, Vol.22 (1), p.11-17
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Biomedical and Life Sciences Biomedicine Exon skipping Human Genetics Molecular Medicine Neurology Neurosciences Original Article Phenotypes Sequence analysis
Online-Zugang:	Volltext
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