| 000 | 02336 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250516163353.0 | ||
| 264 | 0 | _c20141118 | |
| 008 | 201411s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2013.171 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRouzier, Cécile | |
| 245 | 0 | 0 |
_aQuantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cApr 2014 |
||
| 300 |
_a542-50 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Polymerase gamma |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aDNA-Directed DNA Polymerase _xdeficiency |
| 650 | 0 | 4 |
_aEpilepsia Partialis Continua _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrance |
| 650 | 0 | 4 | _aGene Rearrangement |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 | _aMultiplex Polymerase Chain Reaction |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aWhite People |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aChaussenot, Annabelle | |
| 700 | 1 | _aSerre, Valérie | |
| 700 | 1 | _aFragaki, Konstantina | |
| 700 | 1 | _aBannwarth, Sylvie | |
| 700 | 1 | _aAit-El-Mkadem, Samira | |
| 700 | 1 | _aAttarian, Shahram | |
| 700 | 1 | _aKaphan, Elsa | |
| 700 | 1 | _aCano, Aline | |
| 700 | 1 | _aDelmont, Emilien | |
| 700 | 1 | _aSacconi, Sabrina | |
| 700 | 1 | _aMousson de Camaret, Bénédicte | |
| 700 | 1 | _aRio, Marlène | |
| 700 | 1 | _aLebre, Anne-Sophie | |
| 700 | 1 | _aJardel, Claude | |
| 700 | 1 | _aDeschamps, Romain | |
| 700 | 1 | _aRichelme, Christian | |
| 700 | 1 | _aPouget, Jean | |
| 700 | 1 | _aChabrol, Brigitte | |
| 700 | 1 | _aPaquis-Flucklinger, Véronique | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 22 _gno. 4 _gp. 542-50 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2013.171 _zAvailable from publisher's website |
| 999 |
_c22981593 _d22981593 |
||