000 | 01518 a2200481 4500 | ||
---|---|---|---|
005 | 20250515110549.0 | ||
264 | 0 | _c20080402 | |
008 | 200804s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.9527 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aFouillade, Charles | |
245 | 0 | 0 |
_aActivating NOTCH3 mutation in a patient with small-vessel-disease of the brain. _h[electronic resource] |
260 |
_bHuman mutation _cMar 2008 |
||
300 |
_a452 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aAmino Acid Substitution |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 |
_aCADASIL _xgenetics |
650 | 0 | 4 | _aDimerization |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMice |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aNIH 3T3 Cells |
650 | 0 | 4 | _aProtein Structure, Quaternary |
650 | 0 | 4 | _aReceptor, Notch3 |
650 | 0 | 4 |
_aReceptors, Notch _xchemistry |
650 | 0 | 4 |
_aRecombinant Proteins _xchemistry |
650 | 0 | 4 | _aTransfection |
700 | 1 | _aChabriat, Hugues | |
700 | 1 | _aRiant, Florence | |
700 | 1 | _aMine, Manuèle | |
700 | 1 | _aArnoud, Minh | |
700 | 1 | _aMagy, Laurent | |
700 | 1 | _aBousser, Marie Germaine | |
700 | 1 | _aTournier-Lasserve, Elisabeth | |
700 | 1 | _aJoutel, Anne | |
773 | 0 |
_tHuman mutation _gvol. 29 _gno. 3 _gp. 452 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9527 _zAvailable from publisher's website |
999 |
_c17778725 _d17778725 |