Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
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Author / Creator
Fukuda, Hiromi , Mizuguchi, Takeshi , Doi, Hiroshi , Kameyama, Shinichi , Kunii, Misako , Joki, Hideto , Takahashi, Tatsuya , Komiya, Hiroyasu , Sasaki, Mei , Miyaji, Yosuke , Ohori, Sachiko , Koshimizu, Eriko , Uchiyama, Yuri , Tsuchida, Naomi , Fujita, Atsushi , Hamanaka, Kohei , Misawa, Kazuharu , Miyatake, Satoko , Tanaka, Fumiaki and Matsumoto, Naomichi
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
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Scope and Contents
Contents
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower extremities. To date, a total of 88 types of SPG are known. To diagnose HSP, multiple technologies, including microarray, direct sequencing, multiplex ligation-dependent probe amplification...
Alternative Titles
Full title
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Authors, Artists and Contributors
Author / Creator
Mizuguchi, Takeshi
Doi, Hiroshi
Kameyama, Shinichi
Kunii, Misako
Joki, Hideto
Takahashi, Tatsuya
Komiya, Hiroyasu
Sasaki, Mei
Miyaji, Yosuke
Ohori, Sachiko
Koshimizu, Eriko
Uchiyama, Yuri
Tsuchida, Naomi
Fujita, Atsushi
Hamanaka, Kohei
Misawa, Kazuharu
Miyatake, Satoko
Tanaka, Fumiaki
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2825500447
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2825500447
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-023-01170-0
