| 000 | 01742 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516084549.0 | ||
| 264 | 0 | _c20120629 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1558-8238 | ||
| 024 | 7 |
_a10.1172/JCI61976 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKiritsi, Dimitra | |
| 245 | 0 | 0 |
_aRevertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. _h[electronic resource] |
| 260 |
_bThe Journal of clinical investigation _cMay 2012 |
||
| 300 |
_a1742-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBlister _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aEpidermolysis Bullosa _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aINDEL Mutation |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aNeoplasm Proteins _xgenetics |
| 650 | 0 | 4 |
_aPeriodontal Diseases _xgenetics |
| 650 | 0 | 4 |
_aPhotosensitivity Disorders _xgenetics |
| 650 | 0 | 4 | _aRecombination, Genetic |
| 650 | 0 | 4 | _aRemission, Spontaneous |
| 650 | 0 | 4 |
_aSkin _xmetabolism |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHe, Yinghong | |
| 700 | 1 | _aPasmooij, Anna M G | |
| 700 | 1 | _aOnder, Meltem | |
| 700 | 1 | _aHapple, Rudolf | |
| 700 | 1 | _aJonkman, Marcel F | |
| 700 | 1 | _aBruckner-Tuderman, Leena | |
| 700 | 1 | _aHas, Cristina | |
| 773 | 0 |
_tThe Journal of clinical investigation _gvol. 122 _gno. 5 _gp. 1742-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1172/JCI61976 _zAvailable from publisher's website |
| 999 |
_c21669263 _d21669263 |
||