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

@article{Rouzier2014QuantitativeMP,
  title={Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort},
  author={C{\'e}cile Rouzier and Annabelle Chaussenot and Val{\'e}rie Serre and Konstantina Fragaki and Sylvie Bannwarth and Samira Ait-El-Mkadem and Shahram Attarian and Elsa Kaphan and Aline Cano and Emilien Delmont and Sabrina Sacconi and B{\'e}n{\'e}dicte Mousson de Camaret and M. P. Vara-Del R{\'i}o and A S Lebre and Claude Jardel and Romain Deschamps and Christian Richelme and J. Pouget and Brigitte Chabrol and V{\'e}ronique Paquis-Flucklinger},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={22},
  pages={542-550}
}
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 large-scale rearrangement has been described in a child with Alpers syndrome. Below… CONTINUE READING
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Correlation of SMN 2 , NAIP , p 44 , H 4 F 5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

  • A Amara, L Adala, I BenCharfeddine
  • Eur J Paediatr Neurol
  • 2012

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