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

Rouzier, Cécile

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. [electronic resource] - European journal of human genetics : EJHG Apr 2014 - 542-50 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2013.171 doi


Adolescent
Adult
Aged
Child
Child, Preschool
Cohort Studies
DNA Polymerase gamma
DNA, Mitochondrial--genetics
DNA-Directed DNA Polymerase--deficiency
Epilepsia Partialis Continua--genetics
Exons
Female
France
Gene Rearrangement
Heterozygote
Humans
Infant
Male
Middle Aged
Mitochondrial Diseases--genetics
Multiplex Polymerase Chain Reaction
Phenotype
Sequence Analysis, DNA
Sequence Deletion
White People
Young Adult