| 000 | 01748 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514183453.0 | ||
| 264 | 0 | _c20041207 | |
| 008 | 200412s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201185 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aManiura-Weber, Katharina | |
| 245 | 0 | 0 |
_aA novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJun 2004 |
||
| 300 |
_a509-12 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChromosome Segregation |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xchemistry |
| 650 | 0 | 4 |
_aElectron Transport Complex IV _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGastrointestinal Diseases _xgenetics |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMitochondrial Encephalomyopathies _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscle Fibers, Skeletal _xenzymology |
| 650 | 0 | 4 |
_aOphthalmoplegia _xgenetics |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aRNA, Transfer, Trp _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aTaylor, Robert W | |
| 700 | 1 | _aJohnson, Margaret A | |
| 700 | 1 | _aChrzanowska-Lightowlers, Zofia | |
| 700 | 1 | _aMorris, Andrew A M | |
| 700 | 1 | _aCharlton, Charles P J | |
| 700 | 1 | _aTurnbull, Douglass M | |
| 700 | 1 | _aBindoff, Laurence A | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 12 _gno. 6 _gp. 509-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201185 _zAvailable from publisher's website |
| 999 |
_c14770779 _d14770779 |
||