Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1476-5438
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project ; volume:28 ; number:12 ; day:15 ; month:9 ; year:2020 ; pages:1763-1768 ; date:12.2020
European journal of human genetics ; 28, Heft 12 (15.9.2020), 1763-1768, 12.2020
- Urheber
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Bourinaris, Thomas
Smedley, Damian
Cipriani, Valentina
Sheikh, Isabella
Athanasiou-Fragkouli, Alkyoni
Chinnery, Patrick
Morris, Huw
Real, Raquel
Harrison, Victoria
Reid, Evan
Wood, Nicholas
Vandrovcova, Jana
Houlden, Henry
Tucci, Arianna
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1038/s41431-020-00720-w
- URN
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urn:nbn:de:101:1-2021011019020193898388
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:25 MESZ
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Beteiligte
- Bourinaris, Thomas
- Smedley, Damian
- Cipriani, Valentina
- Sheikh, Isabella
- Athanasiou-Fragkouli, Alkyoni
- Chinnery, Patrick
- Morris, Huw
- Real, Raquel
- Harrison, Victoria
- Reid, Evan
- Wood, Nicholas
- Vandrovcova, Jana
- Houlden, Henry
- Tucci, Arianna
- SpringerLink (Online service)
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