| 000 | 02444 a2200769 4500 | ||
|---|---|---|---|
| 005 | 20250517111816.0 | ||
| 264 | 0 | _c20170502 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.06.021 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGuimier, Anne | |
| 245 | 0 | 0 |
_aBiallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c09 2016 |
||
| 300 |
_a666-673 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aDeath, Sudden, Cardiac _xetiology |
| 650 | 0 | 4 | _aDiphosphates |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aGenes, Essential _xgenetics |
| 650 | 0 | 4 | _aGenetic Complementation Test |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aInorganic Pyrophosphatase _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Potential, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aMicrobial Viability |
| 650 | 0 | 4 |
_aMitochondria _xenzymology |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aProton Pumps _xdeficiency |
| 650 | 0 | 4 |
_aSaccharomyces cerevisiae _xcytology |
| 650 | 0 | 4 |
_aSaccharomyces cerevisiae Proteins _xgenetics |
| 700 | 1 | _aGordon, Christopher T | |
| 700 | 1 | _aGodard, François | |
| 700 | 1 | _aRavenscroft, Gianina | |
| 700 | 1 | _aOufadem, Myriam | |
| 700 | 1 | _aVasnier, Christelle | |
| 700 | 1 | _aRambaud, Caroline | |
| 700 | 1 | _aNitschke, Patrick | |
| 700 | 1 | _aBole-Feysot, Christine | |
| 700 | 1 | _aMasson, Cécile | |
| 700 | 1 | _aDauger, Stéphane | |
| 700 | 1 | _aLongman, Cheryl | |
| 700 | 1 | _aLaing, Nigel G | |
| 700 | 1 | _aKugener, Béatrice | |
| 700 | 1 | _aBonnet, Damien | |
| 700 | 1 | _aBouvagnet, Patrice | |
| 700 | 1 | _aDi Filippo, Sylvie | |
| 700 | 1 | _aProbst, Vincent | |
| 700 | 1 | _aRedon, Richard | |
| 700 | 1 | _aCharron, Philippe | |
| 700 | 1 | _aRötig, Agnès | |
| 700 | 1 | _aLyonnet, Stanislas | |
| 700 | 1 | _aDautant, Alain | |
| 700 | 1 | _ade Pontual, Loïc | |
| 700 | 1 | _adi Rago, Jean-Paul | |
| 700 | 1 | _aDelahodde, Agnès | |
| 700 | 1 | _aAmiel, Jeanne | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 99 _gno. 3 _gp. 666-673 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.06.021 _zAvailable from publisher's website |
| 999 |
_c26327154 _d26327154 |
||