Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2369

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation ; volume:15 ; number:1 ; day:1 ; month:7 ; year:2014 ; pages:1-7 ; date:12.2014
BMC nephrology ; 15, Heft 1 (1.7.2014), 1-7, 12.2014

Creator: Valaperta, Rea

Contributor: Rizzo, Vittoria
Lombardi, Fortunata
Verdelli, Chiara
Piccoli, Marco
Ghiroldi, Andrea
Creo, Pasquale
Colombo, Alessio
Valisi, Massimiliano
Margiotta, Elisabetta
Panella, Rossella
Costa, Elena
SpringerLink (Online service)

DOI: 10.1186/1471-2369-15-102

URN: urn:nbn:de:1111-201608134204

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Associated

Valaperta, Rea
Rizzo, Vittoria
Lombardi, Fortunata
Verdelli, Chiara
Piccoli, Marco
Ghiroldi, Andrea
Creo, Pasquale
Colombo, Alessio
Valisi, Massimiliano
Margiotta, Elisabetta
Panella, Rossella
Costa, Elena
SpringerLink (Online service)

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Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation

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Other Objects (12)

ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation

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An immunocompetent patient with a nonsense mutation in NHEJ1 gene

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