| 000 | 02763 a2200877 4500 | ||
|---|---|---|---|
| 005 | 20250515202542.0 | ||
| 264 | 0 | _c20100730 | |
| 008 | 201007s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.21197 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSteenweg, Marjan E | |
| 245 | 0 | 0 |
_aAn overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. _h[electronic resource] |
| 260 |
_bHuman mutation _cApr 2010 |
||
| 300 |
_a380-90 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 |
_aAlcohol Oxidoreductases _xgenetics |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBrain Diseases, Metabolic, Inborn _xenzymology |
| 650 | 0 | 4 | _aDisease Models, Animal |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 700 | 1 | _aJakobs, Cornelis | |
| 700 | 1 | _aErrami, Abdellatif | |
| 700 | 1 | _avan Dooren, Silvy J M | |
| 700 | 1 | _aAdeva Bartolomé, Maria T | |
| 700 | 1 | _aAerssens, Peter | |
| 700 | 1 | _aAugoustides-Savvapoulou, Persephone | |
| 700 | 1 | _aBaric, Ivo | |
| 700 | 1 | _aBaumann, Matthias | |
| 700 | 1 | _aBonafé, Luisa | |
| 700 | 1 | _aChabrol, Brigitte | |
| 700 | 1 | _aClarke, Joe T R | |
| 700 | 1 | _aClayton, Peter | |
| 700 | 1 | _aCoker, Mahmut | |
| 700 | 1 | _aCooper, Sarah | |
| 700 | 1 | _aFalik-Zaccai, Tzipora | |
| 700 | 1 | _aGorman, Mark | |
| 700 | 1 | _aHahn, Andreas | |
| 700 | 1 | _aHasanoglu, Alev | |
| 700 | 1 | _aKing, Mary D | |
| 700 | 1 | _ade Klerk, Hans B C | |
| 700 | 1 | _aKorman, Stanley H | |
| 700 | 1 | _aLee, Céline | |
| 700 | 1 | _aMeldgaard Lund, Allan | |
| 700 | 1 | _aMejaski-Bosnjak, Vlatka | |
| 700 | 1 | _aPascual-Castroviejo, Ignacio | |
| 700 | 1 | _aRaadhyaksha, Aparna | |
| 700 | 1 | _aRootwelt, Terje | |
| 700 | 1 | _aRoubertie, Agathe | |
| 700 | 1 | _aRuiz-Falco, Maria L | |
| 700 | 1 | _aScalais, Emmanuel | |
| 700 | 1 | _aSchimmel, Ulf | |
| 700 | 1 | _aSeijo-Martinez, Manuel | |
| 700 | 1 | _aSuri, Mohnish | |
| 700 | 1 | _aSykut-Cegielska, Jolanta | |
| 700 | 1 | _aTrefz, Friedrich K | |
| 700 | 1 | _aUziel, Graziella | |
| 700 | 1 | _aValayannopoulos, Vassili | |
| 700 | 1 | _aVianey-Saban, Christine | |
| 700 | 1 | _aVlaho, Stefan | |
| 700 | 1 | _aVodopiutz, Julia | |
| 700 | 1 | _aWajner, Moacir | |
| 700 | 1 | _aWalter, John | |
| 700 | 1 | _aWalter-Derbort, Claudia | |
| 700 | 1 | _aYapici, Zuhal | |
| 700 | 1 | _aZafeiriou, Dimitrios I | |
| 700 | 1 | _aSpreeuwenberg, Marieke D | |
| 700 | 1 | _aCelli, Jacopo | |
| 700 | 1 | _aden Dunnen, Johan T | |
| 700 | 1 | _avan der Knaap, Marjo S | |
| 700 | 1 | _aSalomons, Gajja S | |
| 773 | 0 |
_tHuman mutation _gvol. 31 _gno. 4 _gp. 380-90 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21197 _zAvailable from publisher's website |
| 999 |
_c19431932 _d19431932 |
||