Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2377

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report ; volume:19 ; number:1 ; day:27 ; month:10 ; year:2019 ; pages:1-7 ; date:12.2019
BMC neurology ; 19, Heft 1 (27.10.2019), 1-7, 12.2019

Creator: Den, Kouhei
Kudo, Yosuke
Kato, Mitsuhiro
Watanabe, Kosuke
Doi, Hiroshi
Tanaka, Fumiaki
Oguni, Hirokazu
Miyatake, Satoko
Mizuguchi, Takeshi
Takata, Atsushi
Miyake, Noriko
Mitsuhashi, Satomi
Matsumoto, Naomichi

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12883-019-1489-x

URN: urn:nbn:de:101:1-2020021912505847772919

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

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Associated

Den, Kouhei
Kudo, Yosuke
Kato, Mitsuhiro
Watanabe, Kosuke
Doi, Hiroshi
Tanaka, Fumiaki
Oguni, Hirokazu
Miyatake, Satoko
Mizuguchi, Takeshi
Takata, Atsushi
Miyake, Noriko
Mitsuhashi, Satomi
Matsumoto, Naomichi
SpringerLink (Online service)

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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

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Other Objects (12)

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