| 000 | 01258 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250517040806.0 | ||
| 264 | 0 | _c20161027 | |
| 008 | 201610s 0 0 eng d | ||
| 022 | _a1600-0625 | ||
| 024 | 7 |
_a10.1111/exd.12786 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNellen, Ruud G L | |
| 245 | 0 | 0 |
_aPhenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. _h[electronic resource] |
| 260 |
_bExperimental dermatology _cNov 2015 |
||
| 300 |
_a883-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperkeratosis, Epidermolytic _xgenetics |
| 650 | 0 | 4 |
_aKeratin-1 _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aNagtzaam, Ivo F | |
| 700 | 1 | _aHoogeboom, A Jeannette M | |
| 700 | 1 | _aBladergroen, Reno S | |
| 700 | 1 | _aJonkman, Marcel F | |
| 700 | 1 | _aSteijlen, Peter M | |
| 700 | 1 | _avan Steensel, Maurice A M | |
| 700 | 1 | _avan Geel, Michel | |
| 773 | 0 |
_tExperimental dermatology _gvol. 24 _gno. 11 _gp. 883-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/exd.12786 _zAvailable from publisher's website |
| 999 |
_c25026270 _d25026270 |
||