| 000 | 01828 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250514055610.0 | ||
| 264 | 0 | _c20030326 | |
| 008 | 200303s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9107 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAngèle, Sandra | |
| 245 | 0 | 0 |
_aPhenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2003 |
||
| 300 |
_a169-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAtaxia Telangiectasia _xenzymology |
| 650 | 0 | 4 | _aAtaxia Telangiectasia Mutated Proteins |
| 650 | 0 | 4 |
_aCell Cycle _xgenetics |
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aCell Survival _xradiation effects |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLoss of Heterozygosity _xgenetics |
| 650 | 0 | 4 |
_aLymphocytes _xchemistry |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphatidylinositol 3-Kinases _xgenetics |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 |
_aRadiation Tolerance _xgenetics |
| 650 | 0 | 4 | _aTumor Suppressor Proteins |
| 700 | 1 | _aLaugé, Anthony | |
| 700 | 1 | _aFernet, Marie | |
| 700 | 1 | _aMoullan, Norman | |
| 700 | 1 | _aBeauvais, Pierre | |
| 700 | 1 | _aCouturier, Jérôme | |
| 700 | 1 | _aStoppa-Lyonnet, Dominique | |
| 700 | 1 | _aHall, Janet | |
| 773 | 0 |
_tHuman mutation _gvol. 21 _gno. 2 _gp. 169-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9107 _zAvailable from publisher's website |
| 999 |
_c12352065 _d12352065 |
||