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