Article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
European journal of human genetics : EJHG - 1 Apr 2014
Rouzier Cécile, Chaussenot Annabelle, Serre Valérie, Fragaki Konstantina, Bannwarth Sylvie, Ait-El-Mkadem Samira, Attarian Shahram, Kaphan Elsa, Cano Aline, Delmont Emilien, Sacconi Sabrina, Mousson de Camaret Bénédicte, Rio Marlène, Lebre Anne-Sophie, Jardel Claude, Deschamps Romain, Richelme Christian, Pouget Jean, Chabrol Brigitte, Paquis-Flucklinger Véronique
Abstract excerpt
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 mutations, splice-site mutations, small deletions and insertions have also been identified. However, to date, only one...
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