New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion-Reference-Cited by-同舟云学术

New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion

Published:2006-03 Issue:3 Volume:34 Page:177-185
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Galbiati Sara,Bordoni Andreina,Papadimitriou Dimitra,Toscano Antonio,Rodolico Carmelo,Katsarou Efi,Sciacco Monica,Garufi Anastasia,Prelle Alessandro,Aguennouz M.’hammed,Bonsignore Maria,Crimi Marco,Martinuzzi Andrea,Bresolin Nereo,Papadimitriou Alex,Comi Giacomo P.

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference38 articles.

1. Mitochondrial diseases;Di Mauro;Biochim Biophys Acta,2004

2. Mutations in thymidine kinase gene with myopathy and SMA;Mancuso;Neurol,2002

3. MtDNA depletion with variable tissue expression;Moraes;Am J Hum Genet,1991

4. Reversion of mtDNA depletion in a patient with TK2 deficiency;Vilà;Neurol,2003

5. Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2;Johansson;J Biol Chem,1997

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