| 000 | 01715 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250514061615.0 | ||
| 264 | 0 | _c20030618 | |
| 008 | 200306s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s00439-002-0884-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBénit, Paule | |
| 245 | 0 | 0 |
_aGenotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. _h[electronic resource] |
| 260 |
_bHuman genetics _cMay 2003 |
||
| 300 |
_a563-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aElectron Transport Complex I |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeigh Disease _xgenetics |
| 650 | 0 | 4 |
_aLiver _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrosatellite Repeats |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xenzymology |
| 650 | 0 | 4 | _aNADH Dehydrogenase |
| 650 | 0 | 4 |
_aNADH, NADPH Oxidoreductases _xdeficiency |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aSteffann, Julie | |
| 700 | 1 | _aLebon, Sophie | |
| 700 | 1 | _aChretien, Dominique | |
| 700 | 1 | _aKadhom, Noman | |
| 700 | 1 | _ade Lonlay, Pascale | |
| 700 | 1 | _aGoldenberg, Alice | |
| 700 | 1 | _aDumez, Yves | |
| 700 | 1 | _aDommergues, Marc | |
| 700 | 1 | _aRustin, Pierre | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aRötig, Agnès | |
| 773 | 0 |
_tHuman genetics _gvol. 112 _gno. 5-6 _gp. 563-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-002-0884-2 _zAvailable from publisher's website |
| 999 |
_c12412098 _d12412098 |
||