TY  - GEN
AU  - Rouzier,Cécile
AU  - Chaussenot,Annabelle
AU  - Serre,Valérie
AU  - Fragaki,Konstantina
AU  - Bannwarth,Sylvie
AU  - Ait-El-Mkadem,Samira
AU  - Attarian,Shahram
AU  - Kaphan,Elsa
AU  - Cano,Aline
AU  - Delmont,Emilien
AU  - Sacconi,Sabrina
AU  - Mousson de Camaret,Bénédicte
AU  - Rio,Marlène
AU  - Lebre,Anne-Sophie
AU  - Jardel,Claude
AU  - Deschamps,Romain
AU  - Richelme,Christian
AU  - Pouget,Jean
AU  - Chabrol,Brigitte
AU  - Paquis-Flucklinger,Véronique
TI  - Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
SN  - 1476-5438
PY  - 2014///1118
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - DNA Polymerase gamma
KW  - DNA, Mitochondrial
KW  - genetics
KW  - DNA-Directed DNA Polymerase
KW  - deficiency
KW  - Epilepsia Partialis Continua
KW  - Exons
KW  - Female
KW  - France
KW  - Gene Rearrangement
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Diseases
KW  - Multiplex Polymerase Chain Reaction
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - White People
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2013.171
ER  -