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
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