| 000 | 02661 a2200901 4500 | ||
|---|---|---|---|
| 005 | 20250514070220.0 | ||
| 264 | 0 | _c20040130 | |
| 008 | 200401s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/ddg148 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAlam, N A | |
| 245 | 0 | 0 |
_aGenetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cJun 2003 |
||
| 300 |
_a1241-52 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aEnzyme Stability |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFumarate Hydratase _xchemistry |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aLeiomyomatosis _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aRNA Stability |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 |
_aSkin Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aUterine Neoplasms _xgenetics |
| 700 | 1 | _aRowan, A J | |
| 700 | 1 | _aWortham, N C | |
| 700 | 1 | _aPollard, P J | |
| 700 | 1 | _aMitchell, M | |
| 700 | 1 | _aTyrer, J P | |
| 700 | 1 | _aBarclay, E | |
| 700 | 1 | _aCalonje, E | |
| 700 | 1 | _aManek, S | |
| 700 | 1 | _aAdams, S J | |
| 700 | 1 | _aBowers, P W | |
| 700 | 1 | _aBurrows, N P | |
| 700 | 1 | _aCharles-Holmes, R | |
| 700 | 1 | _aCook, L J | |
| 700 | 1 | _aDaly, B M | |
| 700 | 1 | _aFord, G P | |
| 700 | 1 | _aFuller, L C | |
| 700 | 1 | _aHadfield-Jones, S E | |
| 700 | 1 | _aHardwick, N | |
| 700 | 1 | _aHighet, A S | |
| 700 | 1 | _aKeefe, M | |
| 700 | 1 | _aMacDonald-Hull, S P | |
| 700 | 1 | _aPotts, E D A | |
| 700 | 1 | _aCrone, M | |
| 700 | 1 | _aWilkinson, S | |
| 700 | 1 | _aCamacho-Martinez, F | |
| 700 | 1 | _aJablonska, S | |
| 700 | 1 | _aRatnavel, R | |
| 700 | 1 | _aMacDonald, A | |
| 700 | 1 | _aMann, R J | |
| 700 | 1 | _aGrice, K | |
| 700 | 1 | _aGuillet, G | |
| 700 | 1 | _aLewis-Jones, M S | |
| 700 | 1 | _aMcGrath, H | |
| 700 | 1 | _aSeukeran, D C | |
| 700 | 1 | _aMorrison, P J | |
| 700 | 1 | _aFleming, S | |
| 700 | 1 | _aRahman, S | |
| 700 | 1 | _aKelsell, D | |
| 700 | 1 | _aLeigh, I | |
| 700 | 1 | _aOlpin, S | |
| 700 | 1 | _aTomlinson, I P M | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 12 _gno. 11 _gp. 1241-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddg148 _zAvailable from publisher's website |
| 999 |
_c12547757 _d12547757 |
||