Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mut...

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Κύριοι συγγραφείς: Rouzier, Cécile, Chaussenot, Annabelle, Serre, Valérie, Fragaki, Konstantina, Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Attarian, Shahram, Kaphan, Elsa, Cano, Aline, Delmont, Emilien, Sacconi, Sabrina, de Camaret, Bénédicte Mousson, Rio, Marlène, Lebre, Anne-Sophie, Jardel, Claude, Deschamps, Romain, Richelme, Christian, Pouget, Jean, Chabrol, Brigitte, Paquis-Flucklinger, Véronique
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group 2014
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953900/
https://ncbi.nlm.nih.gov/pubmed/23921535
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.171
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