- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy ; volume:10 ; number:1 ; day:5 ; month:6 ; year:2015 ; pages:1-5 ; date:12.2015
Orphanet journal of rare diseases ; 10, Heft 1 (5.6.2015), 1-5, 12.2015
- Creator
-
Gutierrez, Mariana
Thiffault, Isabelle
Guerrero, Kether
Martos-Moreno, Gabriel Á
Tran, Luan T.
Benko, William
van der Knaap, Marjo S.
van Spaendonk, Rosalina M. L.
Wolf, Nicole I.
Bernard, Geneviève
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-015-0279-9
- URN
-
urn:nbn:de:101:1-2021082619134400253709
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:47 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Gutierrez, Mariana
- Thiffault, Isabelle
- Guerrero, Kether
- Martos-Moreno, Gabriel Á
- Tran, Luan T.
- Benko, William
- van der Knaap, Marjo S.
- van Spaendonk, Rosalina M. L.
- Wolf, Nicole I.
- Bernard, Geneviève
- SpringerLink (Online service)
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Emerging genotype–phenotype relationships in patients with large NF1 deletions
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