Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients-Reference-Cited by-同舟云学术

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Published:2012-11 Issue:3 Volume:107 Page:409-415
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Navarro-Sastre Aleix,Tort Frederic,Garcia-Villoria Judit,Pons Mónica Ruiz,Nascimento Andrés,Colomer Jaume,Campistol Jaume,Yoldi Maria Eugenia,López-Gallardo Ester,Montoya Julio,Unceta Maria,Martinez Maria Jesús,Briones Paz,Ribes Antonia

Funder

Instituto de Salud Carlos III

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference52 articles.

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2. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA;Mandel;Nat. Genet.,2001

3. DGUOK-related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form;Scaglia,1993

4. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion;Spinazzola;Nat. Genet.,2006

5. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations;El-Hattab;Mol. Genet. Metab.,2010

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