Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
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Author / Creator
Miyatake, Satoko , Doi, Hiroshi , Yaguchi, Hiroaki , Koshimizu, Eriko , Kihara, Naoki , Matsubara, Tomoyasu , Mori, Yasuko , Kunieda, Kenjiro , Shimizu, Yusaku , Toyota, Tomoko , Shirai, Shinichi , Matsushima, Masaaki , Okubo, Masaki , Wada, Taishi , Kunii, Misako , Johkura, Ken , Miyamoto, Ryosuke , Osaki, Yusuke , Miyama, Takabumi , Satoh, Mai , Fujita, Atsushi , Uchiyama, Yuri , Tsuchida, Naomi , Misawa, Kazuharu , Hamanaka, Kohei , Hamanoue, Haruka , Mizuguchi, Takeshi , Morino, Hiroyuki , Izumi, Yuishin , Shimohata, Takayoshi , Yoshida, Kunihiro , Adachi, Hiroaki , Tanaka, Fumiaki , Yabe, Ichiro and Matsumoto, Naomichi
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundAlthough pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of FGF14 repeat expansion to elucidate its repeat motifs and pathogenicity.MethodsWe screened FGF14 repeat expansion in a Japanese cohort of 460 molecularly...
Alternative Titles
Full title
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
Authors, Artists and Contributors
Author / Creator
Doi, Hiroshi
Yaguchi, Hiroaki
Koshimizu, Eriko
Kihara, Naoki
Matsubara, Tomoyasu
Mori, Yasuko
Kunieda, Kenjiro
Shimizu, Yusaku
Toyota, Tomoko
Shirai, Shinichi
Matsushima, Masaaki
Okubo, Masaki
Wada, Taishi
Kunii, Misako
Johkura, Ken
Miyamoto, Ryosuke
Osaki, Yusuke
Miyama, Takabumi
Satoh, Mai
Fujita, Atsushi
Uchiyama, Yuri
Tsuchida, Naomi
Misawa, Kazuharu
Hamanaka, Kohei
Hamanoue, Haruka
Mizuguchi, Takeshi
Morino, Hiroyuki
Izumi, Yuishin
Shimohata, Takayoshi
Yoshida, Kunihiro
Adachi, Hiroaki
Tanaka, Fumiaki
Yabe, Ichiro
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3063462812
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3063462812
Other Identifiers
ISSN
0022-3050,1468-330X
E-ISSN
1468-330X
DOI
10.1136/jnnp-2024-333541
