Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1476-5438
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
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

Creator
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
Contributor
SpringerLink (Online service)

DOI
10.1038/s41431-020-00720-w
URN
urn:nbn:de:101:1-2021011019020193898388
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:25 AM CEST

Data provider

This object is provided by:
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Associated

  • 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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