| 000 | 01679 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514225419.0 | ||
| 264 | 0 | _c20050617 | |
| 008 | 200506s 0 0 eng d | ||
| 022 | _a0003-9942 | ||
| 024 | 7 |
_a10.1001/archneur.62.5.745 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMancuso, Michelangelo | |
| 245 | 0 | 0 |
_aNew DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. _h[electronic resource] |
| 260 |
_bArchives of neurology _cMay 2005 |
||
| 300 |
_a745-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aBlotting, Northern _xmethods |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHepatic Encephalopathy _xetiology |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLiver _xmetabolism |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xcomplications |
| 650 | 0 | 4 |
_aMuscles _xmetabolism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhosphotransferases (Alcohol Group Acceptor) _xgenetics |
| 650 | 0 | 4 |
_aRNA, Messenger _xbiosynthesis |
| 650 | 0 | 4 |
_aReverse Transcriptase Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aFerraris, Silvio | |
| 700 | 1 | _aPancrudo, Jacklyn | |
| 700 | 1 | _aFeigenbaum, Annette | |
| 700 | 1 | _aRaiman, Julian | |
| 700 | 1 | _aChristodoulou, John | |
| 700 | 1 | _aThorburn, David R | |
| 700 | 1 | _aDiMauro, Salvatore | |
| 773 | 0 |
_tArchives of neurology _gvol. 62 _gno. 5 _gp. 745-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1001/archneur.62.5.745 _zAvailable from publisher's website |
| 999 |
_c15546369 _d15546369 |
||