| 000 | 01769 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250514225546.0 | ||
| 264 | 0 | _c20050726 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a0007-0963 | ||
| 024 | 7 |
_a10.1111/j.1365-2133.2005.06542.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCsikós, M | |
| 245 | 0 | 0 |
_aHigh frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. _h[electronic resource] |
| 260 |
_bThe British journal of dermatology _cMay 2005 |
||
| 300 |
_a879-86 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCollagen Type VII _xgenetics |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aEpidermolysis Bullosa Dystrophica _xgenetics |
| 650 | 0 | 4 | _aEpitope Mapping |
| 650 | 0 | 4 | _aEurope |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aSkin _ximmunology |
| 700 | 1 | _aSzocs, H I | |
| 700 | 1 | _aLászik, A | |
| 700 | 1 | _aMecklenbeck, S | |
| 700 | 1 | _aHorváth, A | |
| 700 | 1 | _aKárpáti, S | |
| 700 | 1 | _aBruckner-Tuderman, L | |
| 773 | 0 |
_tThe British journal of dermatology _gvol. 152 _gno. 5 _gp. 879-86 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1365-2133.2005.06542.x _zAvailable from publisher's website |
| 999 |
_c15550972 _d15550972 |
||