Literature DB >> 15349879

Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

Eleonora Lamantea, Massimo Zeviani.   

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Year:  2004        PMID： 15349879     DOI： 10.1002/ana.20219

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  2 in total

1.  Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

Authors:  Karen L DeBalsi; Matthew J Longley; Kirsten E Hoff; William C Copeland
Journal:  J Biol Chem       Date:  2017-02-02       Impact factor: 5.157

2.  Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Authors:  Maaike C de Vries; Richard J Rodenburg; Eva Morava; Edwin P M van Kaauwen; Henk ter Laak; Reinier A Mullaart; Irina N Snoeck; Peter M van Hasselt; Peter Harding; Lambert P W van den Heuvel; Jan A M Smeitink
Journal:  Eur J Pediatr       Date:  2006-09-07       Impact factor: 3.860
  2 in total

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