Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on...

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Bibliographic Details
Main Authors: Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Biomedicines
Subjects:
inherited peripheral neuropathies (IPNs)
Charcot–Marie–Tooth (CMT)
gene panel sequencings
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Online Access:https://www.mdpi.com/2227-9059/10/7/1546

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https://www.mdpi.com/2227-9059/10/7/1546

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