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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

Mutations in the gene encoding the catalytic subunit of polymerase γ (POLG1) are a major cause of human mitochondrial disease. More than 150 different point mutations in the gene have been reported to be disease causing, resulting in a large range of clinical symptoms. Depending on the mutation or c...

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Detalhes bibliográficos
Main Authors: Naess, Karin, Barbaro, Michela, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, von Döbeln, Ulrika, Larsson, Nils-Göran, Nemeth, Antal, Lesko, Nicole
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509876/
https://ncbi.nlm.nih.gov/pubmed/23430898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_73
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